Canonical Allele Identifier: CA387720735

Gene: B3GLCT

Linked Data

• ClinVar Variation Id: 2280572
• ClinVar RCV Id: RCV002818713
• gnomAD v4: 13-31269238-A-T
• MyVariant Identifiers: chr13:g.31843375A>T (hg19) ; chr13:g.31269238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269238A>T , CM000675.2:g.31269238A>T	GRCh38
NC_000013.10:g.31843375A>T , CM000675.1:g.31843375A>T	GRCh37
NC_000013.9:g.30741375A>T	NCBI36
NG_011732.1:g.74264A>T
NG_011732.2:g.74264A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.621A>T MANE Select	ENSP00000343002.4:p.Glu207Asp
ENST00000343307.4:c.621A>T	ENSP00000343002.4:p.Glu207Asp
ENST00000461652.2:n.236A>T
NM_194318.3:c.621A>T	NP_919299.3:p.Glu207Asp
XM_006719768.2:c.564A>T	XP_006719831.1:p.Glu188Asp
XM_011534936.1:c.621A>T	XP_011533238.1:p.Glu207Asp
XM_011534937.1:c.621A>T	XP_011533239.1:p.Glu207Asp
XM_011534938.1:c.474A>T	XP_011533240.1:p.Glu158Asp
XR_941500.1:n.720A>T
XR_941501.1:n.720A>T
XM_006719768.3:c.564A>T	XP_006719831.1:p.Glu188Asp
XM_011534938.2:c.474A>T	XP_011533240.1:p.Glu158Asp
XM_017020395.1:c.474A>T	XP_016875884.1:p.Glu158Asp
NM_194318.4:c.621A>T MANE Select	NP_919299.3:p.Glu207Asp