Canonical Allele Identifier: CA237790241

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57627680G>T , CM000674.2:g.57627680G>T	GRCh38
NC_000012.11:g.58021463G>T , CM000674.1:g.58021463G>T	GRCh37
NC_000012.10:g.56307730G>T	NCBI36
NG_033849.1:g.10560C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001478.5:c.1322C>A MANE Select	NP_001469.1:p.Ala441Glu
ENST00000341156.9:c.1322C>A MANE Select	ENSP00000341562.4:p.Ala441Glu
NM_001276468.1:c.1157C>A	NP_001263397.1:p.Ala386Glu
NM_001276468.2:c.1157C>A	NP_001263397.1:p.Ala386Glu
NM_001478.4:c.1322C>A	NP_001469.1:p.Ala441Glu
ENST00000341156.8:c.1322C>A	ENSP00000341562.4:p.Ala441Glu
ENST00000418555.6:c.1157C>A	ENSP00000401601.2:p.Ala386Glu
ENST00000547741.1:c.370C>A
ENST00000552468.1:n.1686C>A
ENST00000552798.5:c.*585C>A	ENSP00000447076.1:n.*585C>A
ENST00000553142.5:n.1966C>A
XM_005268773.3:c.1355C>A	XP_005268830.1:p.Ala452Glu
XM_005268773.5:c.1355C>A	XP_005268830.1:p.Ala452Glu
XM_011538147.1:c.1373C>A	XP_011536449.1:p.Ala458Glu
XM_011538147.3:c.1373C>A	XP_011536449.1:p.Ala458Glu
XM_011538148.1:c.1340C>A	XP_011536450.1:p.Ala447Glu
XM_017019140.2:c.1457C>A	XP_016874629.1:p.Ala486Glu
XM_017019141.1:c.1457C>A	XP_016874630.1:p.Ala486Glu
XM_017019142.1:c.1322C>A	XP_016874631.1:p.Ala441Glu
XM_024448928.1:c.1340C>A	XP_024304696.1:p.Ala447Glu
XM_024448929.1:c.800C>A	XP_024304697.1:p.Ala267Glu
XR_002957307.1:n.1739C>A