Canonical Allele Identifier: CA447985343
Gene: B4GALT7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.177036006T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177609005T>A , CM000667.2:g.177609005T>A GRCh38
NC_000005.9:g.177036006T>A , CM000667.1:g.177036006T>A GRCh37
NC_000005.8:g.176968612T>A NCBI36
NG_015977.1:g.13888T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.819T>A MANE Select ENSP00000029410.5:p.Ala273=
ENST00000029410.9:c.819T>A ENSP00000029410.5:p.Ala273=
ENST00000505145.1:n.1917T>A
ENST00000505433.5:c.*325T>A ENSP00000425591.1:n.*325T>A
ENST00000515353.1:n.1641T>A
NM_007255.2:c.819T>A NP_009186.1:p.Ala273=
XM_005265805.2:c.477T>A XP_005265862.1:p.Ala159=
XM_006714816.2:c.339T>A XP_006714879.1:p.Ala113=
XM_011534421.1:c.477T>A XP_011532723.1:p.Ala159=
XM_006714816.4:c.339T>A XP_006714879.1:p.Ala113=
XM_017008999.2:c.477T>A XP_016864488.1:p.Ala159=
NM_007255.3:c.819T>A MANE Select NP_009186.1:p.Ala273=