Canonical Allele Identifier: CA1440789687

Gene: BST1

Linked Data

• dbSNP Id: rs4538475
• gnomAD v3: 4-15736314-A-T
• gnomAD v4: 4-15736314-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15736314A>T , CM000666.2:g.15736314A>T	GRCh38
NC_000004.11:g.15737937A>T , CM000666.1:g.15737937A>T	GRCh37
NC_000004.10:g.15347035A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000514445.5:c.480+183A>T	ENSP00000420925.1:n.480+183A>T
ENST00000514989.1:c.275-1473A>T
XM_005248186.1:c.852-1473A>T	XP_005248243.1:n.852-1473A>T
XM_011513878.1:c.851+13380A>T	XP_011512180.1:n.851+13380A>T
XM_011513879.1:c.852-1394A>T	XP_011512181.1:n.852-1394A>T
XM_005248186.2:c.852-1473A>T	XP_005248243.1:n.852-1473A>T
XM_011513878.3:c.851+13380A>T	XP_011512180.1:n.851+13380A>T
XM_011513879.2:c.852-1394A>T	XP_011512181.1:n.852-1394A>T
XM_017008565.2:c.*12+183A>T	XP_016864054.1:n.*12+183A>T
XM_017008566.2:c.851+13380A>T	XP_016864055.1:n.851+13380A>T