Canonical Allele Identifier: CA356138451
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862832G>A , CM000666.2:g.4862832G>A GRCh38
NC_000004.11:g.4864559G>A , CM000666.1:g.4864559G>A GRCh37
NC_000004.10:g.4915460G>A NCBI36
NG_008121.1:g.8168G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.601G>A MANE Select ENSP00000372170.4:p.Glu201Lys
ENST00000382723.4:c.601G>A ENSP00000372170.4:p.Glu201Lys
ENST00000468421.1:n.313G>A
NM_002448.3:c.601G>A MANE Select NP_002439.2:p.Glu201Lys