Canonical Allele Identifier: CA356138423
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862818A>G , CM000666.2:g.4862818A>G GRCh38
NC_000004.11:g.4864545A>G , CM000666.1:g.4864545A>G GRCh37
NC_000004.10:g.4915446A>G NCBI36
NG_008121.1:g.8154A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.587A>G MANE Select ENSP00000372170.4:p.Tyr196Cys
ENST00000382723.4:c.587A>G ENSP00000372170.4:p.Tyr196Cys
ENST00000468421.1:n.299A>G
NM_002448.3:c.587A>G MANE Select NP_002439.2:p.Tyr196Cys