Canonical Allele Identifier: CA387720930

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269278G>T , CM000675.2:g.31269278G>T	GRCh38
NC_000013.10:g.31843415G>T , CM000675.1:g.31843415G>T	GRCh37
NC_000013.9:g.30741415G>T	NCBI36
NG_011732.1:g.74304G>T
NG_011732.2:g.74304G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_194318.4:c.660+1G>T MANE Select	NP_919299.3:n.660+1G>T
ENST00000343307.5:c.660+1G>T MANE Select	ENSP00000343002.4:n.660+1G>T
NM_194318.3:c.660+1G>T	NP_919299.3:n.660+1G>T
ENST00000343307.4:c.660+1G>T	ENSP00000343002.4:n.660+1G>T
ENST00000461652.2:n.275+1G>T
XM_006719768.2:c.603+1G>T	XP_006719831.1:n.603+1G>T
XM_006719768.3:c.603+1G>T	XP_006719831.1:n.603+1G>T
XM_011534936.1:c.660+1G>T	XP_011533238.1:n.660+1G>T
XM_011534937.1:c.660+1G>T	XP_011533239.1:n.660+1G>T
XM_011534938.1:c.513+1G>T	XP_011533240.1:n.513+1G>T
XM_011534938.2:c.513+1G>T	XP_011533240.1:n.513+1G>T
XM_017020395.1:c.513+1G>T	XP_016875884.1:n.513+1G>T
XR_941500.1:n.759+1G>T
XR_941501.1:n.759+1G>T