Canonical Allele Identifier: CA387819013

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891732G>T (hg19) ; chr13:g.31317595G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317595G>T , CM000675.2:g.31317595G>T	GRCh38
NC_000013.10:g.31891732G>T , CM000675.1:g.31891732G>T	GRCh37
NC_000013.9:g.30789732G>T	NCBI36
NG_011732.1:g.122621G>T
NG_011732.2:g.122621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1094G>T MANE Select	ENSP00000343002.4:p.Cys365Phe
ENST00000343307.4:c.1094G>T	ENSP00000343002.4:p.Cys365Phe
NM_194318.3:c.1094G>T	NP_919299.3:p.Cys365Phe
XM_006719768.2:c.1037G>T	XP_006719831.1:p.Cys346Phe
XM_011534936.1:c.1065-6156G>T	XP_011533238.1:n.1065-6156G>T
XM_011534937.1:c.974G>T	XP_011533239.1:p.Cys325Phe
XM_011534938.1:c.947G>T	XP_011533240.1:p.Cys316Phe
XR_941500.1:n.1279G>T
XR_941501.1:n.1159G>T
XM_006719768.3:c.1037G>T	XP_006719831.1:p.Cys346Phe
XM_011534938.2:c.947G>T	XP_011533240.1:p.Cys316Phe
XM_017020395.1:c.947G>T	XP_016875884.1:p.Cys316Phe
NM_194318.4:c.1094G>T MANE Select	NP_919299.3:p.Cys365Phe