Canonical Allele Identifier: CA387720806

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31269253-C-A
• MyVariant Identifiers: chr13:g.31843390C>A (hg19) ; chr13:g.31269253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269253C>A , CM000675.2:g.31269253C>A	GRCh38
NC_000013.10:g.31843390C>A , CM000675.1:g.31843390C>A	GRCh37
NC_000013.9:g.30741390C>A	NCBI36
NG_011732.1:g.74279C>A
NG_011732.2:g.74279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.636C>A MANE Select	ENSP00000343002.4:p.Asp212Glu
ENST00000343307.4:c.636C>A	ENSP00000343002.4:p.Asp212Glu
ENST00000461652.2:n.251C>A
NM_194318.3:c.636C>A	NP_919299.3:p.Asp212Glu
XM_006719768.2:c.579C>A	XP_006719831.1:p.Asp193Glu
XM_011534936.1:c.636C>A	XP_011533238.1:p.Asp212Glu
XM_011534937.1:c.636C>A	XP_011533239.1:p.Asp212Glu
XM_011534938.1:c.489C>A	XP_011533240.1:p.Asp163Glu
XR_941500.1:n.735C>A
XR_941501.1:n.735C>A
XM_006719768.3:c.579C>A	XP_006719831.1:p.Asp193Glu
XM_011534938.2:c.489C>A	XP_011533240.1:p.Asp163Glu
XM_017020395.1:c.489C>A	XP_016875884.1:p.Asp163Glu
NM_194318.4:c.636C>A MANE Select	NP_919299.3:p.Asp212Glu