Canonical Allele Identifier: CA356139254
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863138-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863138A>C , CM000666.2:g.4863138A>C GRCh38
NC_000004.11:g.4864865A>C , CM000666.1:g.4864865A>C GRCh37
NC_000004.10:g.4915766A>C NCBI36
NG_008121.1:g.8474A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.907A>C MANE Select ENSP00000372170.4:p.Thr303Pro
ENST00000382723.4:c.907A>C ENSP00000372170.4:p.Thr303Pro
NM_002448.3:c.907A>C MANE Select NP_002439.2:p.Thr303Pro