Canonical Allele Identifier: CA11639054
Gene: BST1 HGNC NCBI

Linked Data

dbSNP Id: rs12502586
gnomAD v2: 4-15726564-G-A
gnomAD v3: 4-15724941-G-A
gnomAD v4: 4-15724941-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15724941G>A , CM000666.2:g.15724941G>A GRCh38
NC_000004.11:g.15726564G>A , CM000666.1:g.15726564G>A GRCh37
NC_000004.10:g.15335662G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000265016.9:c.851+2007G>A MANE Select ENSP00000265016.4:n.851+2007G>A
ENST00000265016.8:c.851+2007G>A ENSP00000265016.4:n.851+2007G>A
ENST00000382346.7:c.896+2007G>A ENSP00000371783.3:n.896+2007G>A
ENST00000514445.5:c.401+2007G>A ENSP00000420925.1:n.401+2007G>A
ENST00000514989.1:c.274+2007G>A
NM_004334.2:c.851+2007G>A NP_004325.2:n.851+2007G>A
XM_005248184.3:c.851+2007G>A XP_005248241.1:n.851+2007G>A
XM_005248186.1:c.851+2007G>A XP_005248243.1:n.851+2007G>A
XM_011513878.1:c.851+2007G>A XP_011512180.1:n.851+2007G>A
XM_011513879.1:c.851+2007G>A XP_011512181.1:n.851+2007G>A
XM_011513880.1:c.851+2007G>A XP_011512182.1:n.851+2007G>A
XM_011513881.1:c.677+2007G>A XP_011512183.1:n.677+2007G>A
XM_005248186.2:c.851+2007G>A XP_005248243.1:n.851+2007G>A
XM_011513878.3:c.851+2007G>A XP_011512180.1:n.851+2007G>A
XM_011513879.2:c.851+2007G>A XP_011512181.1:n.851+2007G>A
XM_011513881.2:c.677+2007G>A XP_011512183.1:n.677+2007G>A
XM_017008565.2:c.851+2007G>A XP_016864054.1:n.851+2007G>A
XM_017008566.2:c.851+2007G>A XP_016864055.1:n.851+2007G>A
NM_004334.3:c.851+2007G>A MANE Select NP_004325.2:n.851+2007G>A