Canonical Allele Identifier: CA3586618

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608557C>A , CM000667.2:g.177608557C>A	GRCh38
NC_000005.9:g.177035558C>A , CM000667.1:g.177035558C>A	GRCh37
NC_000005.8:g.176968164C>A	NCBI36
NG_015977.1:g.13440C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007255.3:c.658C>A MANE Select	NP_009186.1:p.Arg220Ser
ENST00000029410.10:c.658C>A MANE Select	ENSP00000029410.5:p.Arg220Ser
NM_007255.2:c.658C>A	NP_009186.1:p.Arg220Ser
ENST00000029410.9:c.658C>A	ENSP00000029410.5:p.Arg220Ser
ENST00000505145.1:n.1756C>A
ENST00000505433.5:c.*164C>A	ENSP00000425591.1:n.*164C>A
ENST00000515353.1:n.1193C>A
XM_005265805.2:c.316C>A	XP_005265862.1:p.Arg106Ser
XM_006714816.2:c.178C>A	XP_006714879.1:p.Arg60Ser
XM_006714816.4:c.178C>A	XP_006714879.1:p.Arg60Ser
XM_011534421.1:c.316C>A	XP_011532723.1:p.Arg106Ser
XM_017008999.2:c.316C>A	XP_016864488.1:p.Arg106Ser