Canonical Allele Identifier: CA356138391
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862804C>G , CM000666.2:g.4862804C>G GRCh38
NC_000004.11:g.4864531C>G , CM000666.1:g.4864531C>G GRCh37
NC_000004.10:g.4915432C>G NCBI36
NG_008121.1:g.8140C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.573C>G MANE Select ENSP00000372170.4:p.Phe191Leu
ENST00000382723.4:c.573C>G ENSP00000372170.4:p.Phe191Leu
ENST00000468421.1:n.285C>G
NM_002448.3:c.573C>G MANE Select NP_002439.2:p.Phe191Leu