Canonical Allele Identifier: CA149625

Gene: B3GLCT

Linked Data

• ClinVar Variation Id: 96624
• ClinVar RCV Id: RCV000082784 ; RCV000840285 ; RCV001111252
• dbSNP Id: rs1041073
• ExAC: 13:31891746 G / A
• gnomAD v2: 13-31891746-G-A
• gnomAD v3: 13-31317609-G-A
• gnomAD v4: 13-31317609-G-A
• MyVariant Identifiers: chr13:g.31891746G>A (hg19) ; chr13:g.31317609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317609G>A , CM000675.2:g.31317609G>A	GRCh38
NC_000013.10:g.31891746G>A , CM000675.1:g.31891746G>A	GRCh37
NC_000013.9:g.30789746G>A	NCBI36
NG_011732.1:g.122635G>A
NG_011732.2:g.122635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1108G>A MANE Select	ENSP00000343002.4:p.Glu370Lys
ENST00000343307.4:c.1108G>A	ENSP00000343002.4:p.Glu370Lys
NM_194318.3:c.1108G>A	NP_919299.3:p.Glu370Lys
XM_006719768.2:c.1051G>A	XP_006719831.1:p.Glu351Lys
XM_011534936.1:c.1065-6142G>A	XP_011533238.1:n.1065-6142G>A
XM_011534937.1:c.988G>A	XP_011533239.1:p.Glu330Lys
XM_011534938.1:c.961G>A	XP_011533240.1:p.Glu321Lys
XR_941500.1:n.1293G>A
XR_941501.1:n.1173G>A
XM_006719768.3:c.1051G>A	XP_006719831.1:p.Glu351Lys
XM_011534938.2:c.961G>A	XP_011533240.1:p.Glu321Lys
XM_017020395.1:c.961G>A	XP_016875884.1:p.Glu321Lys
NM_194318.4:c.1108G>A MANE Select	NP_919299.3:p.Glu370Lys