Canonical Allele Identifier: CA362376997

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608994C>A , CM000667.2:g.177608994C>A	GRCh38
NC_000005.9:g.177035995C>A , CM000667.1:g.177035995C>A	GRCh37
NC_000005.8:g.176968601C>A	NCBI36
NG_015977.1:g.13877C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007255.3:c.808C>A MANE Select	NP_009186.1:p.Arg270Ser
ENST00000029410.10:c.808C>A MANE Select	ENSP00000029410.5:p.Arg270Ser
NM_007255.2:c.808C>A	NP_009186.1:p.Arg270Ser
ENST00000029410.9:c.808C>A	ENSP00000029410.5:p.Arg270Ser
ENST00000505145.1:n.1906C>A
ENST00000505433.5:c.*314C>A	ENSP00000425591.1:n.*314C>A
ENST00000515353.1:n.1630C>A
XM_005265805.2:c.466C>A	XP_005265862.1:p.Arg156Ser
XM_006714816.2:c.328C>A	XP_006714879.1:p.Arg110Ser
XM_006714816.4:c.328C>A	XP_006714879.1:p.Arg110Ser
XM_011534421.1:c.466C>A	XP_011532723.1:p.Arg156Ser
XM_017008999.2:c.466C>A	XP_016864488.1:p.Arg156Ser