Canonical Allele Identifier: CA16175338
Gene: BST1 HGNC NCBI

Linked Data

dbSNP Id: rs12645693
gnomAD v2: 4-15729534-G-A
gnomAD v3: 4-15727911-G-A
gnomAD v4: 4-15727911-G-A
MyVariant Identifiers: chr4:g.15729534G>A (hg19) chr4:g.15727911G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15727911G>A , CM000666.2:g.15727911G>A GRCh38
NC_000004.11:g.15729534G>A , CM000666.1:g.15729534G>A GRCh37
NC_000004.10:g.15338632G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265016.9:c.852-3829G>A MANE Select ENSP00000265016.4:n.852-3829G>A
ENST00000265016.8:c.852-3829G>A ENSP00000265016.4:n.852-3829G>A
ENST00000382346.7:c.897-3829G>A ENSP00000371783.3:n.897-3829G>A
ENST00000514445.5:c.401+4977G>A ENSP00000420925.1:n.401+4977G>A
ENST00000514989.1:c.274+4977G>A
NM_004334.2:c.852-3829G>A NP_004325.2:n.852-3829G>A
XM_005248184.3:c.851+4977G>A XP_005248241.1:n.851+4977G>A
XM_005248186.1:c.851+4977G>A XP_005248243.1:n.851+4977G>A
XM_011513878.1:c.851+4977G>A XP_011512180.1:n.851+4977G>A
XM_011513879.1:c.851+4977G>A XP_011512181.1:n.851+4977G>A
XM_011513880.1:c.852-2723G>A XP_011512182.1:n.852-2723G>A
XM_011513881.1:c.678-3829G>A XP_011512183.1:n.678-3829G>A
XM_005248186.2:c.851+4977G>A XP_005248243.1:n.851+4977G>A
XM_011513878.3:c.851+4977G>A XP_011512180.1:n.851+4977G>A
XM_011513879.2:c.851+4977G>A XP_011512181.1:n.851+4977G>A
XM_011513881.2:c.678-3829G>A XP_011512183.1:n.678-3829G>A
XM_017008565.2:c.851+4977G>A XP_016864054.1:n.851+4977G>A
XM_017008566.2:c.851+4977G>A XP_016864055.1:n.851+4977G>A
NM_004334.3:c.852-3829G>A MANE Select NP_004325.2:n.852-3829G>A
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