Canonical Allele Identifier: CA387720840

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31843395C>A (hg19) ; chr13:g.31269258C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269258C>A , CM000675.2:g.31269258C>A	GRCh38
NC_000013.10:g.31843395C>A , CM000675.1:g.31843395C>A	GRCh37
NC_000013.9:g.30741395C>A	NCBI36
NG_011732.1:g.74284C>A
NG_011732.2:g.74284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.641C>A MANE Select	ENSP00000343002.4:p.Thr214Lys
ENST00000343307.4:c.641C>A	ENSP00000343002.4:p.Thr214Lys
ENST00000461652.2:n.256C>A
NM_194318.3:c.641C>A	NP_919299.3:p.Thr214Lys
XM_006719768.2:c.584C>A	XP_006719831.1:p.Thr195Lys
XM_011534936.1:c.641C>A	XP_011533238.1:p.Thr214Lys
XM_011534937.1:c.641C>A	XP_011533239.1:p.Thr214Lys
XM_011534938.1:c.494C>A	XP_011533240.1:p.Thr165Lys
XR_941500.1:n.740C>A
XR_941501.1:n.740C>A
XM_006719768.3:c.584C>A	XP_006719831.1:p.Thr195Lys
XM_011534938.2:c.494C>A	XP_011533240.1:p.Thr165Lys
XM_017020395.1:c.494C>A	XP_016875884.1:p.Thr165Lys
NM_194318.4:c.641C>A MANE Select	NP_919299.3:p.Thr214Lys