Canonical Allele Identifier: CA387819019

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891735A>T (hg19) ; chr13:g.31317598A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317598A>T , CM000675.2:g.31317598A>T	GRCh38
NC_000013.10:g.31891735A>T , CM000675.1:g.31891735A>T	GRCh37
NC_000013.9:g.30789735A>T	NCBI36
NG_011732.1:g.122624A>T
NG_011732.2:g.122624A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1097A>T MANE Select	ENSP00000343002.4:p.Tyr366Phe
ENST00000343307.4:c.1097A>T	ENSP00000343002.4:p.Tyr366Phe
NM_194318.3:c.1097A>T	NP_919299.3:p.Tyr366Phe
XM_006719768.2:c.1040A>T	XP_006719831.1:p.Tyr347Phe
XM_011534936.1:c.1065-6153A>T	XP_011533238.1:n.1065-6153A>T
XM_011534937.1:c.977A>T	XP_011533239.1:p.Tyr326Phe
XM_011534938.1:c.950A>T	XP_011533240.1:p.Tyr317Phe
XR_941500.1:n.1282A>T
XR_941501.1:n.1162A>T
XM_006719768.3:c.1040A>T	XP_006719831.1:p.Tyr347Phe
XM_011534938.2:c.950A>T	XP_011533240.1:p.Tyr317Phe
XM_017020395.1:c.950A>T	XP_016875884.1:p.Tyr317Phe
NM_194318.4:c.1097A>T MANE Select	NP_919299.3:p.Tyr366Phe