Canonical Allele Identifier: CA385494375

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57627711C>T , CM000674.2:g.57627711C>T	GRCh38
NC_000012.11:g.58021494C>T , CM000674.1:g.58021494C>T	GRCh37
NC_000012.10:g.56307761C>T	NCBI36
NG_033849.1:g.10529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341156.9:c.1291G>A MANE Select	ENSP00000341562.4:p.Val431Ile
ENST00000341156.8:c.1291G>A	ENSP00000341562.4:p.Val431Ile
ENST00000418555.6:c.1126G>A	ENSP00000401601.2:p.Val376Ile
ENST00000547741.1:c.339G>A
ENST00000552468.1:n.1655G>A
ENST00000552798.5:c.*554G>A	ENSP00000447076.1:n.*554G>A
ENST00000553142.5:n.1935G>A
NM_001276468.1:c.1126G>A	NP_001263397.1:p.Val376Ile
NM_001478.4:c.1291G>A	NP_001469.1:p.Val431Ile
XM_005268773.3:c.1324G>A	XP_005268830.1:p.Val442Ile
XM_011538147.1:c.1342G>A	XP_011536449.1:p.Val448Ile
XM_011538148.1:c.1309G>A	XP_011536450.1:p.Val437Ile
XM_005268773.5:c.1324G>A	XP_005268830.1:p.Val442Ile
XM_011538147.3:c.1342G>A	XP_011536449.1:p.Val448Ile
XM_017019140.2:c.1426G>A	XP_016874629.1:p.Val476Ile
XM_017019141.1:c.1426G>A	XP_016874630.1:p.Val476Ile
XM_017019142.1:c.1291G>A	XP_016874631.1:p.Val431Ile
XM_024448928.1:c.1309G>A	XP_024304696.1:p.Val437Ile
XM_024448929.1:c.769G>A	XP_024304697.1:p.Val257Ile
XR_002957307.1:n.1708G>A
NM_001478.5:c.1291G>A MANE Select	NP_001469.1:p.Val431Ile
NM_001276468.2:c.1126G>A	NP_001263397.1:p.Val376Ile