Canonical Allele Identifier: CA385493231

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57626946C>T , CM000674.2:g.57626946C>T	GRCh38
NC_000012.11:g.58020729C>T , CM000674.1:g.58020729C>T	GRCh37
NC_000012.10:g.56306996C>T	NCBI36
NG_033849.1:g.11294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341156.9:c.1400G>A MANE Select	ENSP00000341562.4:p.Gly467Glu
ENST00000341156.8:c.1400G>A	ENSP00000341562.4:p.Gly467Glu
ENST00000418555.6:c.1235G>A	ENSP00000401601.2:p.Gly412Glu
ENST00000547741.1:c.448G>A
ENST00000552468.1:n.1764G>A
ENST00000552798.5:c.*663G>A	ENSP00000447076.1:n.*663G>A
ENST00000553142.5:n.2044G>A
NM_001276468.1:c.1235G>A	NP_001263397.1:p.Gly412Glu
NM_001478.4:c.1400G>A	NP_001469.1:p.Gly467Glu
XM_005268773.3:c.1433G>A	XP_005268830.1:p.Gly478Glu
XM_011538147.1:c.1451G>A	XP_011536449.1:p.Gly484Glu
XM_011538148.1:c.1418G>A	XP_011536450.1:p.Gly473Glu
XM_005268773.5:c.1433G>A	XP_005268830.1:p.Gly478Glu
XM_011538147.3:c.1451G>A	XP_011536449.1:p.Gly484Glu
XM_017019140.2:c.1535G>A	XP_016874629.1:p.Gly512Glu
XM_017019141.1:c.1535G>A	XP_016874630.1:p.Gly512Glu
XM_017019142.1:c.1400G>A	XP_016874631.1:p.Gly467Glu
XM_024448928.1:c.1418G>A	XP_024304696.1:p.Gly473Glu
XM_024448929.1:c.878G>A	XP_024304697.1:p.Gly293Glu
XR_002957307.1:n.1817G>A
NM_001478.5:c.1400G>A MANE Select	NP_001469.1:p.Gly467Glu
NM_001276468.2:c.1235G>A	NP_001263397.1:p.Gly412Glu