Canonical Allele Identifier: CA12057655
Gene: CAST HGNC NCBI

Linked Data

dbSNP Id: rs4869307
gnomAD v2: 5-96028968-G-A
gnomAD v3: 5-96693264-G-A
gnomAD v4: 5-96693264-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96693264G>A , CM000667.2:g.96693264G>A GRCh38
NC_000005.9:g.96028968G>A , CM000667.1:g.96028968G>A GRCh37
NC_000005.8:g.96054724G>A NCBI36
NG_029490.1:g.36228G>A
NG_029490.2:g.36228G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000508608.6:c.94-2572G>A ENSP00000422677.2:n.94-2572G>A
ENST00000674702.1:c.76-29375G>A ENSP00000502345.1:n.76-29375G>A
ENST00000674984.1:c.139-2572G>A ENSP00000501713.1:n.139-2572G>A
ENST00000675107.1:n.175-2572G>A
ENST00000675179.1:c.139-2572G>A MANE Select ENSP00000501872.1:n.139-2572G>A
ENST00000675267.1:c.94-2572G>A ENSP00000502095.1:n.94-2572G>A
ENST00000675663.1:c.94-2572G>A ENSP00000502449.1:n.94-2572G>A
ENST00000338252.7:c.-111-2572G>A ENSP00000343421.3:n.-111-2572G>A
ENST00000395812.6:c.139-2572G>A ENSP00000379157.2:n.139-2572G>A
ENST00000421689.6:c.139-2572G>A ENSP00000396558.2:n.139-2572G>A
ENST00000505143.5:c.124-2572G>A ENSP00000422957.1:n.124-2572G>A
ENST00000506811.5:c.94-2572G>A ENSP00000427092.1:n.94-2572G>A
ENST00000507487.5:n.159-2572G>A
ENST00000508608.5:c.94-2572G>A ENSP00000422677.1:n.94-2572G>A
ENST00000508830.5:c.139-2572G>A ENSP00000425721.1:n.139-2572G>A
ENST00000510756.5:c.139-2572G>A ENSP00000422176.1:n.139-2572G>A
ENST00000511097.6:c.139-2572G>A ENSP00000422951.2:n.139-2572G>A
ENST00000512620.5:c.87-2572G>A
ENST00000514055.5:c.94-2572G>A ENSP00000421230.1:n.94-2572G>A
ENST00000514845.5:c.94-2572G>A ENSP00000422612.1:n.94-2572G>A
ENST00000515160.5:n.159-2572G>A
NM_001042440.3:c.139-2572G>A NP_001035905.1:n.139-2572G>A
NM_001190442.1:c.-111-2572G>A NP_001177371.1:n.-111-2572G>A
XM_006714696.2:c.139-2572G>A XP_006714759.1:n.139-2572G>A
XM_006714697.2:c.139-2572G>A XP_006714760.1:n.139-2572G>A
XM_006714698.2:c.139-2572G>A XP_006714761.1:n.139-2572G>A
XM_006714699.2:c.94-2572G>A XP_006714762.1:n.94-2572G>A
XM_006714700.2:c.139-2572G>A XP_006714763.1:n.139-2572G>A
XM_006714701.2:c.139-2572G>A XP_006714764.1:n.139-2572G>A
XM_006714702.2:c.94-2572G>A XP_006714765.1:n.94-2572G>A
XM_006714703.2:c.139-2572G>A XP_006714766.1:n.139-2572G>A
XM_006714704.2:c.94-2572G>A XP_006714767.1:n.94-2572G>A
XM_006714705.2:c.139-2572G>A XP_006714768.1:n.139-2572G>A
XM_006714706.2:c.94-2572G>A XP_006714769.1:n.94-2572G>A
XM_011543654.1:c.139-2572G>A XP_011541956.1:n.139-2572G>A
XM_011543655.1:c.139-2572G>A XP_011541957.1:n.139-2572G>A
XM_011543656.1:c.139-2572G>A XP_011541958.1:n.139-2572G>A
XM_011543657.1:c.94-2572G>A XP_011541959.1:n.94-2572G>A
XM_011543659.1:c.139-2572G>A XP_011541961.1:n.139-2572G>A
NM_001042440.4:c.139-2572G>A NP_001035905.1:n.139-2572G>A
NM_001042441.2:c.139-2572G>A NP_001035906.1:n.139-2572G>A
NM_001042442.2:c.139-2572G>A NP_001035907.1:n.139-2572G>A
NM_001330626.1:c.139-2572G>A NP_001317555.1:n.139-2572G>A
NM_001330627.1:c.139-2572G>A NP_001317556.1:n.139-2572G>A
NM_001330628.1:c.94-2572G>A NP_001317557.1:n.94-2572G>A
NM_001330629.1:c.94-2572G>A NP_001317558.1:n.94-2572G>A
NM_001750.6:c.139-2572G>A NP_001741.4:n.139-2572G>A
NM_001042440.5:c.139-2572G>A NP_001035905.1:n.139-2572G>A
NM_001042441.3:c.139-2572G>A NP_001035906.1:n.139-2572G>A
NM_001042442.3:c.139-2572G>A NP_001035907.1:n.139-2572G>A
NM_001330626.2:c.139-2572G>A NP_001317555.1:n.139-2572G>A
NM_001330627.2:c.139-2572G>A NP_001317556.1:n.139-2572G>A
NM_001330628.2:c.94-2572G>A NP_001317557.1:n.94-2572G>A
NM_001330629.2:c.94-2572G>A NP_001317558.1:n.94-2572G>A
NM_001375317.1:c.94-2572G>A NP_001362246.1:n.94-2572G>A
NM_001750.7:c.139-2572G>A MANE Select NP_001741.4:n.139-2572G>A
NM_001190442.2:c.-111-2572G>A NP_001177371.1:n.-111-2572G>A