Canonical Allele Identifier: CA483373309

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31317569-C-A
• MyVariant Identifiers: chr13:g.31891706C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317569C>A , CM000675.2:g.31317569C>A	GRCh38
NC_000013.10:g.31891706C>A , CM000675.1:g.31891706C>A	GRCh37
NC_000013.9:g.30789706C>A	NCBI36
NG_011732.1:g.122595C>A
NG_011732.2:g.122595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1068C>A MANE Select	ENSP00000343002.4:p.Ile356=
ENST00000343307.4:c.1068C>A	ENSP00000343002.4:p.Ile356=
NM_194318.3:c.1068C>A	NP_919299.3:p.Ile356=
XM_006719768.2:c.1011C>A	XP_006719831.1:p.Ile337=
XM_011534936.1:c.1065-6182C>A	XP_011533238.1:n.1065-6182C>A
XM_011534937.1:c.948C>A	XP_011533239.1:p.Ile316=
XM_011534938.1:c.921C>A	XP_011533240.1:p.Ile307=
XR_941500.1:n.1253C>A
XR_941501.1:n.1133C>A
XM_006719768.3:c.1011C>A	XP_006719831.1:p.Ile337=
XM_011534938.2:c.921C>A	XP_011533240.1:p.Ile307=
XM_017020395.1:c.921C>A	XP_016875884.1:p.Ile307=
NM_194318.4:c.1068C>A MANE Select	NP_919299.3:p.Ile356=