Canonical Allele Identifier: CA387819006

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31317593-C-G
• MyVariant Identifiers: chr13:g.31891730C>G (hg19) ; chr13:g.31317593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317593C>G , CM000675.2:g.31317593C>G	GRCh38
NC_000013.10:g.31891730C>G , CM000675.1:g.31891730C>G	GRCh37
NC_000013.9:g.30789730C>G	NCBI36
NG_011732.1:g.122619C>G
NG_011732.2:g.122619C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1092C>G MANE Select	ENSP00000343002.4:p.Ser364Arg
ENST00000343307.4:c.1092C>G	ENSP00000343002.4:p.Ser364Arg
NM_194318.3:c.1092C>G	NP_919299.3:p.Ser364Arg
XM_006719768.2:c.1035C>G	XP_006719831.1:p.Ser345Arg
XM_011534936.1:c.1065-6158C>G	XP_011533238.1:n.1065-6158C>G
XM_011534937.1:c.972C>G	XP_011533239.1:p.Ser324Arg
XM_011534938.1:c.945C>G	XP_011533240.1:p.Ser315Arg
XR_941500.1:n.1277C>G
XR_941501.1:n.1157C>G
XM_006719768.3:c.1035C>G	XP_006719831.1:p.Ser345Arg
XM_011534938.2:c.945C>G	XP_011533240.1:p.Ser315Arg
XM_017020395.1:c.945C>G	XP_016875884.1:p.Ser315Arg
NM_194318.4:c.1092C>G MANE Select	NP_919299.3:p.Ser364Arg