Canonical Allele Identifier: CA6655677

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57629958C>T , CM000674.2:g.57629958C>T	GRCh38
NC_000012.11:g.58023741C>T , CM000674.1:g.58023741C>T	GRCh37
NC_000012.10:g.56310008C>T	NCBI36
NG_033849.1:g.8282G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001478.5:c.712+194G>A MANE Select	NP_001469.1:n.712+194G>A
ENST00000341156.9:c.712+194G>A MANE Select	ENSP00000341562.4:n.712+194G>A
NM_001276468.1:c.547+194G>A	NP_001263397.1:n.547+194G>A
NM_001276468.2:c.547+194G>A	NP_001263397.1:n.547+194G>A
NM_001276469.1:c.906G>A	NP_001263398.1:p.Glu302=
NM_001276469.2:c.906G>A	NP_001263398.1:p.Glu302=
NM_001478.4:c.712+194G>A	NP_001469.1:n.712+194G>A
ENST00000341156.8:c.712+194G>A	ENSP00000341562.4:n.712+194G>A
ENST00000418555.6:c.547+194G>A	ENSP00000401601.2:n.547+194G>A
ENST00000449184.7:c.712+194G>A	ENSP00000473533.1:n.712+194G>A
ENST00000549391.5:c.330+194G>A
ENST00000550764.5:c.906G>A	ENSP00000450303.1:p.Glu302=
ENST00000552350.5:c.906G>A	ENSP00000448500.1:p.Glu302=
ENST00000552798.5:c.671+194G>A	ENSP00000447076.1:n.671+194G>A
ENST00000553142.5:n.1093+194G>A
XM_005268773.3:c.712+194G>A	XP_005268830.1:n.712+194G>A
XM_005268773.5:c.712+194G>A	XP_005268830.1:n.712+194G>A
XM_011538147.1:c.712+194G>A	XP_011536449.1:n.712+194G>A
XM_011538147.3:c.712+194G>A	XP_011536449.1:n.712+194G>A
XM_011538148.1:c.712+194G>A	XP_011536450.1:n.712+194G>A
XM_017019140.2:c.712+194G>A	XP_016874629.1:n.712+194G>A
XM_017019141.1:c.712+194G>A	XP_016874630.1:n.712+194G>A
XM_017019142.1:c.712+194G>A	XP_016874631.1:n.712+194G>A
XM_024448928.1:c.712+194G>A	XP_024304696.1:n.712+194G>A
XM_024448929.1:c.-790G>A	XP_024304697.1:n.-790G>A
XR_002957307.1:n.713+194G>A