Canonical Allele Identifier: CA239687

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31284729C>T , CM000675.2:g.31284729C>T	GRCh38
NC_000013.10:g.31858866C>T , CM000675.1:g.31858866C>T	GRCh37
NC_000013.9:g.30756866C>T	NCBI36
NG_011732.1:g.89755C>T
NG_011732.2:g.89755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.932C>T MANE Select	ENSP00000343002.4:p.Thr311Ile
ENST00000343307.4:c.932C>T	ENSP00000343002.4:p.Thr311Ile
ENST00000461652.2:n.785C>T
NM_194318.3:c.932C>T	NP_919299.3:p.Thr311Ile
XM_006719768.2:c.875C>T	XP_006719831.1:p.Thr292Ile
XM_011534936.1:c.932C>T	XP_011533238.1:p.Thr311Ile
XM_011534937.1:c.812C>T	XP_011533239.1:p.Thr271Ile
XM_011534938.1:c.785C>T	XP_011533240.1:p.Thr262Ile
XR_941500.1:n.1117C>T
XR_941501.1:n.997C>T
XM_006719768.3:c.875C>T	XP_006719831.1:p.Thr292Ile
XM_011534938.2:c.785C>T	XP_011533240.1:p.Thr262Ile
XM_017020395.1:c.785C>T	XP_016875884.1:p.Thr262Ile
NM_194318.4:c.932C>T MANE Select	NP_919299.3:p.Thr311Ile