Canonical Allele Identifier: CA3586690
Community Standard Title: NM_007255.3(B4GALT7):c.809G>A (p.Arg270His)
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177608995G>A , CM000667.2:g.177608995G>A GRCh38
NC_000005.9:g.177035996G>A , CM000667.1:g.177035996G>A GRCh37
NC_000005.8:g.176968602G>A NCBI36
NG_015977.1:g.13878G>A

Transcript Alleles

HGVS Amino-acid Change
NM_007255.3:c.809G>A MANE Select NP_009186.1:p.Arg270His
ENST00000029410.10:c.809G>A MANE Select ENSP00000029410.5:p.Arg270His
NM_007255.2:c.809G>A NP_009186.1:p.Arg270His
ENST00000029410.9:c.809G>A ENSP00000029410.5:p.Arg270His
ENST00000505145.1:n.1907G>A
ENST00000505433.5:c.*315G>A ENSP00000425591.1:n.*315G>A
ENST00000515353.1:n.1631G>A
XM_005265805.2:c.467G>A XP_005265862.1:p.Arg156His
XM_006714816.2:c.329G>A XP_006714879.1:p.Arg110His
XM_006714816.4:c.329G>A XP_006714879.1:p.Arg110His
XM_011534421.1:c.467G>A XP_011532723.1:p.Arg156His
XM_017008999.2:c.467G>A XP_016864488.1:p.Arg156His