Canonical Allele Identifier: CA6936912

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31329498C>T , CM000675.2:g.31329498C>T	GRCh38
NC_000013.10:g.31903635C>T , CM000675.1:g.31903635C>T	GRCh37
NC_000013.9:g.30801635C>T	NCBI36
NG_011732.1:g.134524C>T
NG_011732.2:g.134524C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_194318.4:c.1330-3C>T MANE Select	NP_919299.3:n.1330-3C>T
ENST00000343307.5:c.1330-3C>T MANE Select	ENSP00000343002.4:n.1330-3C>T
NM_194318.3:c.1330-3C>T	NP_919299.3:n.1330-3C>T
ENST00000343307.4:c.1330-3C>T	ENSP00000343002.4:n.1330-3C>T
XM_006719768.2:c.1273-3C>T	XP_006719831.1:n.1273-3C>T
XM_006719768.3:c.1273-3C>T	XP_006719831.1:n.1273-3C>T
XM_011534936.1:c.1210-3C>T	XP_011533238.1:n.1210-3C>T
XM_011534937.1:c.1210-3C>T	XP_011533239.1:n.1210-3C>T
XM_011534938.1:c.1183-3C>T	XP_011533240.1:n.1183-3C>T
XM_011534938.2:c.1183-3C>T	XP_011533240.1:n.1183-3C>T
XM_017020395.1:c.1183-3C>T	XP_016875884.1:n.1183-3C>T