Canonical Allele Identifier: CA385573224

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57626833G>A , CM000674.2:g.57626833G>A	GRCh38
NC_000012.11:g.58020616G>A , CM000674.1:g.58020616G>A	GRCh37
NC_000012.10:g.56306883G>A	NCBI36
NG_033849.1:g.11407C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001478.5:c.1513C>T MANE Select	NP_001469.1:p.Arg505Cys
ENST00000341156.9:c.1513C>T MANE Select	ENSP00000341562.4:p.Arg505Cys
NM_001276468.1:c.1348C>T	NP_001263397.1:p.Arg450Cys
NM_001276468.2:c.1348C>T	NP_001263397.1:p.Arg450Cys
NM_001478.4:c.1513C>T	NP_001469.1:p.Arg505Cys
ENST00000341156.8:c.1513C>T	ENSP00000341562.4:p.Arg505Cys
ENST00000418555.6:c.1348C>T	ENSP00000401601.2:p.Arg450Cys
ENST00000552468.1:n.1877C>T
ENST00000552798.5:c.*776C>T	ENSP00000447076.1:n.*776C>T
ENST00000553142.5:n.2157C>T
XM_005268773.3:c.1546C>T	XP_005268830.1:p.Arg516Cys
XM_005268773.5:c.1546C>T	XP_005268830.1:p.Arg516Cys
XM_011538147.1:c.1564C>T	XP_011536449.1:p.Arg522Cys
XM_011538147.3:c.1564C>T	XP_011536449.1:p.Arg522Cys
XM_011538148.1:c.1531C>T	XP_011536450.1:p.Arg511Cys
XM_017019140.2:c.1648C>T	XP_016874629.1:p.Arg550Cys
XM_017019141.1:c.1648C>T	XP_016874630.1:p.Arg550Cys
XM_017019142.1:c.1513C>T	XP_016874631.1:p.Arg505Cys
XM_024448928.1:c.1531C>T	XP_024304696.1:p.Arg511Cys
XM_024448929.1:c.991C>T	XP_024304697.1:p.Arg331Cys
XR_002957307.1:n.1930C>T