Canonical Allele Identifier: CA149630

Gene: B3GLCT

Linked Data

• ClinVar Variation Id: 96628
• ClinVar RCV Id: RCV000082788 ; RCV001114525 ; RCV000835712
• dbSNP Id: rs4943266
• ExAC: 13:31821992 T / C
• gnomAD v2: 13-31821992-T-C
• gnomAD v3: 13-31247855-T-C
• gnomAD v4: 13-31247855-T-C
• MyVariant Identifiers: chr13:g.31821992T>C (hg19) ; chr13:g.31247855T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31247855T>C , CM000675.2:g.31247855T>C	GRCh38
NC_000013.10:g.31821992T>C , CM000675.1:g.31821992T>C	GRCh37
NC_000013.9:g.30719992T>C	NCBI36
NG_011732.1:g.52881T>C
NG_011732.2:g.52881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.348T>C MANE Select	ENSP00000343002.4:p.His116=
ENST00000343307.4:c.348T>C	ENSP00000343002.4:p.His116=
NM_194318.3:c.348T>C	NP_919299.3:p.His116=
XM_006719768.2:c.291T>C	XP_006719831.1:p.His97=
XM_011534936.1:c.348T>C	XP_011533238.1:p.His116=
XM_011534937.1:c.348T>C	XP_011533239.1:p.His116=
XM_011534938.1:c.201T>C	XP_011533240.1:p.His67=
XR_941500.1:n.447T>C
XR_941501.1:n.447T>C
XM_006719768.3:c.291T>C	XP_006719831.1:p.His97=
XM_011534938.2:c.201T>C	XP_011533240.1:p.His67=
XM_017020395.1:c.201T>C	XP_016875884.1:p.His67=
NM_194318.4:c.348T>C MANE Select	NP_919299.3:p.His116=