Canonical Allele Identifier: CA3586686
Community Standard Title: NM_007255.3(B4GALT7):c.790C>T (p.Arg264Trp)
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177608976C>T , CM000667.2:g.177608976C>T GRCh38
NC_000005.9:g.177035977C>T , CM000667.1:g.177035977C>T GRCh37
NC_000005.8:g.176968583C>T NCBI36
NG_015977.1:g.13859C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007255.3:c.790C>T MANE Select NP_009186.1:p.Arg264Trp
ENST00000029410.10:c.790C>T MANE Select ENSP00000029410.5:p.Arg264Trp
NM_007255.2:c.790C>T NP_009186.1:p.Arg264Trp
ENST00000029410.9:c.790C>T ENSP00000029410.5:p.Arg264Trp
ENST00000505145.1:n.1888C>T
ENST00000505433.5:c.*296C>T ENSP00000425591.1:n.*296C>T
ENST00000515353.1:n.1612C>T
XM_005265805.2:c.448C>T XP_005265862.1:p.Arg150Trp
XM_006714816.2:c.310C>T XP_006714879.1:p.Arg104Trp
XM_006714816.4:c.310C>T XP_006714879.1:p.Arg104Trp
XM_011534421.1:c.448C>T XP_011532723.1:p.Arg150Trp
XM_017008999.2:c.448C>T XP_016864488.1:p.Arg150Trp