Canonical Allele Identifier: CA2676715048

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177409562A>G , CM000667.2:g.177409562A>G GRCh38
NC_000005.9:g.176836563A>G , CM000667.1:g.176836563A>G GRCh37
NC_000005.8:g.176769169A>G NCBI36
NG_007568.1:g.5015T>C , LRG_145:g.5015T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.-35T>C (F12) ENSP00000512476.1:n.-35T>C
ENST00000696193.1:c.-35T>C (F12) ENSP00000512477.1:n.-35T>C
ENST00000696194.1:c.-35T>C (F12) ENSP00000512478.1:n.-35T>C
ENST00000696195.1:n.14T>C (F12)
ENST00000696200.1:n.79-10T>C (F12)
ENST00000253496.4:c.-35T>C (F12) MANE Select ENSP00000253496.3:n.-35T>C
ENST00000253496.3:c.-35T>C (F12) ENSP00000253496.3:n.-35T>C
ENST00000502598.5:c.-45+6036A>G (GRK6) ENSP00000422873.1:n.-45+6036A>G
ENST00000506296.5:c.-45+5005A>G (GRK6) ENSP00000421055.1:n.-45+5005A>G
NM_000505.3:c.-35T>C , LRG_145t1:c.-35T>C (F12) NP_000496.2:n.-35T>C
XM_011534461.1:c.-25-10T>C (F12) XP_011532763.1:n.-25-10T>C
XM_017009773.2:c.1417-2202A>G (SLC34A1) XP_016865262.1:n.1417-2202A>G
NM_000505.4:c.-35T>C (F12) MANE Select NP_000496.2:n.-35T>C