Canonical Allele Identifier: CA132891835
Community Standard Title: NM_007255.3(B4GALT7):c.94T>A (p.Phe32Ile)
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604222T>A , CM000667.2:g.177604222T>A GRCh38
NC_000005.9:g.177031223T>A , CM000667.1:g.177031223T>A GRCh37
NC_000005.8:g.176963829T>A NCBI36
NG_015977.1:g.9105T>A

Transcript Alleles

HGVS Amino-acid Change
NM_007255.3:c.94T>A MANE Select NP_009186.1:p.Phe32Ile
ENST00000029410.10:c.94T>A MANE Select ENSP00000029410.5:p.Phe32Ile
NM_007255.2:c.94T>A NP_009186.1:p.Phe32Ile
ENST00000029410.9:c.94T>A ENSP00000029410.5:p.Phe32Ile
ENST00000502420.1:n.130-57T>A
ENST00000505433.5:c.94T>A ENSP00000425591.1:p.Phe32Ile
ENST00000505468.1:c.-249T>A ENSP00000420886.1:n.-249T>A
ENST00000510761.1:c.-249T>A ENSP00000423438.1:n.-249T>A
XM_005265805.2:c.-249T>A XP_005265862.1:n.-249T>A
XM_006714816.2:c.-406T>A XP_006714879.1:n.-406T>A
XM_006714816.4:c.-406T>A XP_006714879.1:n.-406T>A
XM_011534421.1:c.-249T>A XP_011532723.1:n.-249T>A
XM_017008999.2:c.-249T>A XP_016864488.1:n.-249T>A