Canonical Allele Identifier: CA356139168
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863100T>A , CM000666.2:g.4863100T>A GRCh38
NC_000004.11:g.4864827T>A , CM000666.1:g.4864827T>A GRCh37
NC_000004.10:g.4915728T>A NCBI36
NG_008121.1:g.8436T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.869T>A MANE Select ENSP00000372170.4:p.Leu290His
ENST00000382723.4:c.869T>A ENSP00000372170.4:p.Leu290His
NM_002448.3:c.869T>A MANE Select NP_002439.2:p.Leu290His