Canonical Allele Identifier: CA513323
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1204842
ClinVar RCV Id: RCV001571312 RCV003771740
dbSNP Id: rs767598361
ExAC: 1:1168012 C / T
gnomAD v2: 1-1168012-C-T
gnomAD v3: 1-1232632-C-T
gnomAD v4: 1-1232632-C-T
MyVariant Identifiers: chr1:g.1168012C>T (hg19) chr1:g.1168012_1168015delinsTCTG (hg19) chr1:g.1232632C>T (hg38) chr1:g.1232632_1232635delinsTCTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232632C>T , CM000663.2:g.1232632C>T GRCh38
NC_000001.10:g.1168012C>T , CM000663.1:g.1168012C>T GRCh37
NC_000001.9:g.1157875C>T NCBI36
NG_030007.1:g.4436G>A
NG_033265.1:g.5384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.354C>T MANE Select ENSP00000368496.2:p.Asp118=
ENST00000379198.3:c.354C>T ENSP00000368496.2:p.Asp118=
NM_080605.3:c.354C>T NP_542172.2:p.Asp118=
NM_080605.4:c.354C>T MANE Select NP_542172.2:p.Asp118=
Search 100 bp 5'
Search 100 bp 3'