Canonical Allele Identifier: CA387819000

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891728A>C (hg19) ; chr13:g.31317591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317591A>C , CM000675.2:g.31317591A>C	GRCh38
NC_000013.10:g.31891728A>C , CM000675.1:g.31891728A>C	GRCh37
NC_000013.9:g.30789728A>C	NCBI36
NG_011732.1:g.122617A>C
NG_011732.2:g.122617A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1090A>C MANE Select	ENSP00000343002.4:p.Ser364Arg
ENST00000343307.4:c.1090A>C	ENSP00000343002.4:p.Ser364Arg
NM_194318.3:c.1090A>C	NP_919299.3:p.Ser364Arg
XM_006719768.2:c.1033A>C	XP_006719831.1:p.Ser345Arg
XM_011534936.1:c.1065-6160A>C	XP_011533238.1:n.1065-6160A>C
XM_011534937.1:c.970A>C	XP_011533239.1:p.Ser324Arg
XM_011534938.1:c.943A>C	XP_011533240.1:p.Ser315Arg
XR_941500.1:n.1275A>C
XR_941501.1:n.1155A>C
XM_006719768.3:c.1033A>C	XP_006719831.1:p.Ser345Arg
XM_011534938.2:c.943A>C	XP_011533240.1:p.Ser315Arg
XM_017020395.1:c.943A>C	XP_016875884.1:p.Ser315Arg
NM_194318.4:c.1090A>C MANE Select	NP_919299.3:p.Ser364Arg