Canonical Allele Identifier: CA3586524
Community Standard Title: NM_007255.3(B4GALT7):c.522C>T (p.Asp174=)
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177607410C>T , CM000667.2:g.177607410C>T GRCh38
NC_000005.9:g.177034411C>T , CM000667.1:g.177034411C>T GRCh37
NC_000005.8:g.176967017C>T NCBI36
NG_015977.1:g.12293C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007255.3:c.522C>T MANE Select NP_009186.1:p.Asp174=
ENST00000029410.10:c.522C>T MANE Select ENSP00000029410.5:p.Asp174=
NM_007255.2:c.522C>T NP_009186.1:p.Asp174=
ENST00000029410.9:c.522C>T ENSP00000029410.5:p.Asp174=
ENST00000502420.1:n.501C>T
ENST00000505145.1:n.1620C>T
ENST00000505433.5:c.*28C>T ENSP00000425591.1:n.*28C>T
ENST00000515353.1:n.46C>T
XM_005265805.2:c.180C>T XP_005265862.1:p.Asp60=
XM_006714816.2:c.42C>T XP_006714879.1:p.Asp14=
XM_006714816.4:c.42C>T XP_006714879.1:p.Asp14=
XM_011534421.1:c.180C>T XP_011532723.1:p.Asp60=
XM_017008999.2:c.180C>T XP_016864488.1:p.Asp60=