Canonical Allele Identifier: CA1603685592
Community Standard Title: NM_007255.3(B4GALT7):c.808C= (p.Arg270=)
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_007255.3:c.808C= MANE Select NP_009186.1:p.Arg270=
ENST00000029410.10:c.808C= MANE Select ENSP00000029410.5:p.Arg270=
NM_007255.2:c.808C= NP_009186.1:p.Arg270=
ENST00000029410.9:c.808C= ENSP00000029410.5:p.Arg270=
ENST00000505145.1:n.1906C=
ENST00000505433.5:c.*314C= ENSP00000425591.1:n.*314C=
ENST00000515353.1:n.1630C=
XM_005265805.2:c.466C= XP_005265862.1:p.Arg156=
XM_006714816.2:c.328C= XP_006714879.1:p.Arg110=
XM_006714816.4:c.328C= XP_006714879.1:p.Arg110=
XM_011534421.1:c.466C= XP_011532723.1:p.Arg156=
XM_017008999.2:c.466C= XP_016864488.1:p.Arg156=