Canonical Allele Identifier: CA387720883

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31843404T>A (hg19) ; chr13:g.31269267T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269267T>A , CM000675.2:g.31269267T>A	GRCh38
NC_000013.10:g.31843404T>A , CM000675.1:g.31843404T>A	GRCh37
NC_000013.9:g.30741404T>A	NCBI36
NG_011732.1:g.74293T>A
NG_011732.2:g.74293T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.650T>A MANE Select	ENSP00000343002.4:p.Leu217Ter
ENST00000343307.4:c.650T>A	ENSP00000343002.4:p.Leu217Ter
ENST00000461652.2:n.265T>A
NM_194318.3:c.650T>A	NP_919299.3:p.Leu217Ter
XM_006719768.2:c.593T>A	XP_006719831.1:p.Leu198Ter
XM_011534936.1:c.650T>A	XP_011533238.1:p.Leu217Ter
XM_011534937.1:c.650T>A	XP_011533239.1:p.Leu217Ter
XM_011534938.1:c.503T>A	XP_011533240.1:p.Leu168Ter
XR_941500.1:n.749T>A
XR_941501.1:n.749T>A
XM_006719768.3:c.593T>A	XP_006719831.1:p.Leu198Ter
XM_011534938.2:c.503T>A	XP_011533240.1:p.Leu168Ter
XM_017020395.1:c.503T>A	XP_016875884.1:p.Leu168Ter
NM_194318.4:c.650T>A MANE Select	NP_919299.3:p.Leu217Ter