Canonical Allele Identifier: CA6655430

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57626891G>C , CM000674.2:g.57626891G>C	GRCh38
NC_000012.11:g.58020674G>C , CM000674.1:g.58020674G>C	GRCh37
NC_000012.10:g.56306941G>C	NCBI36
NG_033849.1:g.11349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341156.9:c.1455C>G MANE Select	ENSP00000341562.4:p.Ser485=
ENST00000341156.8:c.1455C>G	ENSP00000341562.4:p.Ser485=
ENST00000418555.6:c.1290C>G	ENSP00000401601.2:p.Ser430=
ENST00000552468.1:n.1819C>G
ENST00000552798.5:c.*718C>G	ENSP00000447076.1:n.*718C>G
ENST00000553142.5:n.2099C>G
NM_001276468.1:c.1290C>G	NP_001263397.1:p.Ser430=
NM_001478.4:c.1455C>G	NP_001469.1:p.Ser485=
XM_005268773.3:c.1488C>G	XP_005268830.1:p.Ser496=
XM_011538147.1:c.1506C>G	XP_011536449.1:p.Ser502=
XM_011538148.1:c.1473C>G	XP_011536450.1:p.Ser491=
XM_005268773.5:c.1488C>G	XP_005268830.1:p.Ser496=
XM_011538147.3:c.1506C>G	XP_011536449.1:p.Ser502=
XM_017019140.2:c.1590C>G	XP_016874629.1:p.Ser530=
XM_017019141.1:c.1590C>G	XP_016874630.1:p.Ser530=
XM_017019142.1:c.1455C>G	XP_016874631.1:p.Ser485=
XM_024448928.1:c.1473C>G	XP_024304696.1:p.Ser491=
XM_024448929.1:c.933C>G	XP_024304697.1:p.Ser311=
XR_002957307.1:n.1872C>G
NM_001478.5:c.1455C>G MANE Select	NP_001469.1:p.Ser485=
NM_001276468.2:c.1290C>G	NP_001263397.1:p.Ser430=