Canonical Allele Identifier: CA6655439

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57626931C>G , CM000674.2:g.57626931C>G	GRCh38
NC_000012.11:g.58020714C>G , CM000674.1:g.58020714C>G	GRCh37
NC_000012.10:g.56306981C>G	NCBI36
NG_033849.1:g.11309G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001478.5:c.1415G>C MANE Select	NP_001469.1:p.Arg472Pro
ENST00000341156.9:c.1415G>C MANE Select	ENSP00000341562.4:p.Arg472Pro
NM_001276468.1:c.1250G>C	NP_001263397.1:p.Arg417Pro
NM_001276468.2:c.1250G>C	NP_001263397.1:p.Arg417Pro
NM_001478.4:c.1415G>C	NP_001469.1:p.Arg472Pro
ENST00000341156.8:c.1415G>C	ENSP00000341562.4:p.Arg472Pro
ENST00000418555.6:c.1250G>C	ENSP00000401601.2:p.Arg417Pro
ENST00000552468.1:n.1779G>C
ENST00000552798.5:c.*678G>C	ENSP00000447076.1:n.*678G>C
ENST00000553142.5:n.2059G>C
XM_005268773.3:c.1448G>C	XP_005268830.1:p.Arg483Pro
XM_005268773.5:c.1448G>C	XP_005268830.1:p.Arg483Pro
XM_011538147.1:c.1466G>C	XP_011536449.1:p.Arg489Pro
XM_011538147.3:c.1466G>C	XP_011536449.1:p.Arg489Pro
XM_011538148.1:c.1433G>C	XP_011536450.1:p.Arg478Pro
XM_017019140.2:c.1550G>C	XP_016874629.1:p.Arg517Pro
XM_017019141.1:c.1550G>C	XP_016874630.1:p.Arg517Pro
XM_017019142.1:c.1415G>C	XP_016874631.1:p.Arg472Pro
XM_024448928.1:c.1433G>C	XP_024304696.1:p.Arg478Pro
XM_024448929.1:c.893G>C	XP_024304697.1:p.Arg298Pro
XR_002957307.1:n.1832G>C