Canonical Allele Identifier: CA387819016

Gene: B3GLCT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1096T>A MANE Select	ENSP00000343002.4:p.Tyr366Asn
ENST00000343307.4:c.1096T>A	ENSP00000343002.4:p.Tyr366Asn
NM_194318.3:c.1096T>A	NP_919299.3:p.Tyr366Asn
XM_006719768.2:c.1039T>A	XP_006719831.1:p.Tyr347Asn
XM_011534936.1:c.1065-6154T>A	XP_011533238.1:n.1065-6154T>A
XM_011534937.1:c.976T>A	XP_011533239.1:p.Tyr326Asn
XM_011534938.1:c.949T>A	XP_011533240.1:p.Tyr317Asn
XR_941500.1:n.1281T>A
XR_941501.1:n.1161T>A
XM_006719768.3:c.1039T>A	XP_006719831.1:p.Tyr347Asn
XM_011534938.2:c.949T>A	XP_011533240.1:p.Tyr317Asn
XM_017020395.1:c.949T>A	XP_016875884.1:p.Tyr317Asn
NM_194318.4:c.1096T>A MANE Select	NP_919299.3:p.Tyr366Asn