Canonical Allele Identifier: CA913187390

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31229254dup , CM000675.2:g.31229254dup	GRCh38
NC_000013.10:g.31803391dup , CM000675.1:g.31803391dup	GRCh37
NC_000013.9:g.30701391dup	NCBI36
NG_011732.1:g.34280dup
NG_011732.2:g.34280dup

Transcript Alleles

HGVS	Amino-acid Change
NM_194318.4:c.230dup MANE Select	NP_919299.3:p.Leu77PhefsTer27
ENST00000343307.5:c.230dup MANE Select	ENSP00000343002.4:p.Leu77PhefsTer27
NM_194318.3:c.230dup	NP_919299.3:p.Leu77PhefsTer27
ENST00000343307.4:c.230dup	ENSP00000343002.4:p.Leu77PhefsTer27
XM_006719768.2:c.173dup	XP_006719831.1:p.Leu58PhefsTer27
XM_006719768.3:c.173dup	XP_006719831.1:p.Leu58PhefsTer27
XM_011534936.1:c.230dup	XP_011533238.1:p.Leu77PhefsTer27
XM_011534937.1:c.230dup	XP_011533239.1:p.Leu77PhefsTer27
XM_011534938.1:c.83dup	XP_011533240.1:p.Leu28PhefsTer27
XM_011534938.2:c.83dup	XP_011533240.1:p.Leu28PhefsTer27
XM_017020395.1:c.83dup	XP_016875884.1:p.Leu28PhefsTer27
XR_941500.1:n.329dup
XR_941501.1:n.329dup