Canonical Allele Identifier: CA6655660

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57629144G>A , CM000674.2:g.57629144G>A	GRCh38
NC_000012.11:g.58022927G>A , CM000674.1:g.58022927G>A	GRCh37
NC_000012.10:g.56309194G>A	NCBI36
NG_033849.1:g.9096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341156.9:c.715C>T MANE Select	ENSP00000341562.4:p.Arg239Trp
ENST00000341156.8:c.715C>T	ENSP00000341562.4:p.Arg239Trp
ENST00000418555.6:c.550C>T	ENSP00000401601.2:p.Arg184Trp
ENST00000449184.7:c.713-241C>T	ENSP00000473533.1:n.713-241C>T
ENST00000549391.5:c.361C>T
ENST00000552468.1:n.222C>T
ENST00000552798.5:c.674C>T	ENSP00000447076.1:p.Pro225Leu
ENST00000553142.5:n.1096C>T
NM_001276468.1:c.550C>T	NP_001263397.1:p.Arg184Trp
NM_001478.4:c.715C>T	NP_001469.1:p.Arg239Trp
XM_005268773.3:c.715C>T	XP_005268830.1:p.Arg239Trp
XM_011538147.1:c.733C>T	XP_011536449.1:p.Arg245Trp
XM_011538148.1:c.733C>T	XP_011536450.1:p.Arg245Trp
XM_005268773.5:c.715C>T	XP_005268830.1:p.Arg239Trp
XM_011538147.3:c.733C>T	XP_011536449.1:p.Arg245Trp
XM_017019140.2:c.715C>T	XP_016874629.1:p.Arg239Trp
XM_017019141.1:c.715C>T	XP_016874630.1:p.Arg239Trp
XM_017019142.1:c.715C>T	XP_016874631.1:p.Arg239Trp
XM_024448928.1:c.733C>T	XP_024304696.1:p.Arg245Trp
XM_024448929.1:c.25C>T	XP_024304697.1:p.Arg9Trp
XR_002957307.1:n.734C>T
NM_001478.5:c.715C>T MANE Select	NP_001469.1:p.Arg239Trp
NM_001276468.2:c.550C>T	NP_001263397.1:p.Arg184Trp