Canonical Allele Identifier: CA387819195

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891824T>A (hg19) ; chr13:g.31317687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317687T>A , CM000675.2:g.31317687T>A	GRCh38
NC_000013.10:g.31891824T>A , CM000675.1:g.31891824T>A	GRCh37
NC_000013.9:g.30789824T>A	NCBI36
NG_011732.1:g.122713T>A
NG_011732.2:g.122713T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1184+2T>A MANE Select	ENSP00000343002.4:n.1184+2T>A
ENST00000343307.4:c.1184+2T>A	ENSP00000343002.4:n.1184+2T>A
NM_194318.3:c.1184+2T>A	NP_919299.3:n.1184+2T>A
XM_006719768.2:c.1127+2T>A	XP_006719831.1:n.1127+2T>A
XM_011534936.1:c.1065-6064T>A	XP_011533238.1:n.1065-6064T>A
XM_011534937.1:c.1064+2T>A	XP_011533239.1:n.1064+2T>A
XM_011534938.1:c.1037+2T>A	XP_011533240.1:n.1037+2T>A
XM_006719768.3:c.1127+2T>A	XP_006719831.1:n.1127+2T>A
XM_011534938.2:c.1037+2T>A	XP_011533240.1:n.1037+2T>A
XM_017020395.1:c.1037+2T>A	XP_016875884.1:n.1037+2T>A
NM_194318.4:c.1184+2T>A MANE Select	NP_919299.3:n.1184+2T>A