Canonical Allele Identifier: CA356138872
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863030-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863030G>A , CM000666.2:g.4863030G>A GRCh38
NC_000004.11:g.4864757G>A , CM000666.1:g.4864757G>A GRCh37
NC_000004.10:g.4915658G>A NCBI36
NG_008121.1:g.8366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.799G>A MANE Select ENSP00000372170.4:p.Ala267Thr
ENST00000382723.4:c.799G>A ENSP00000372170.4:p.Ala267Thr
NM_002448.3:c.799G>A MANE Select NP_002439.2:p.Ala267Thr