Canonical Allele Identifier: CA387819018

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891734T>G (hg19) ; chr13:g.31317597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317597T>G , CM000675.2:g.31317597T>G	GRCh38
NC_000013.10:g.31891734T>G , CM000675.1:g.31891734T>G	GRCh37
NC_000013.9:g.30789734T>G	NCBI36
NG_011732.1:g.122623T>G
NG_011732.2:g.122623T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1096T>G MANE Select	ENSP00000343002.4:p.Tyr366Asp
ENST00000343307.4:c.1096T>G	ENSP00000343002.4:p.Tyr366Asp
NM_194318.3:c.1096T>G	NP_919299.3:p.Tyr366Asp
XM_006719768.2:c.1039T>G	XP_006719831.1:p.Tyr347Asp
XM_011534936.1:c.1065-6154T>G	XP_011533238.1:n.1065-6154T>G
XM_011534937.1:c.976T>G	XP_011533239.1:p.Tyr326Asp
XM_011534938.1:c.949T>G	XP_011533240.1:p.Tyr317Asp
XR_941500.1:n.1281T>G
XR_941501.1:n.1161T>G
XM_006719768.3:c.1039T>G	XP_006719831.1:p.Tyr347Asp
XM_011534938.2:c.949T>G	XP_011533240.1:p.Tyr317Asp
XM_017020395.1:c.949T>G	XP_016875884.1:p.Tyr317Asp
NM_194318.4:c.1096T>G MANE Select	NP_919299.3:p.Tyr366Asp