Canonical Allele Identifier: CA356138416
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862815A>T , CM000666.2:g.4862815A>T GRCh38
NC_000004.11:g.4864542A>T , CM000666.1:g.4864542A>T GRCh37
NC_000004.10:g.4915443A>T NCBI36
NG_008121.1:g.8151A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.584A>T MANE Select ENSP00000372170.4:p.Gln195Leu
ENST00000382723.4:c.584A>T ENSP00000372170.4:p.Gln195Leu
ENST00000468421.1:n.296A>T
NM_002448.3:c.584A>T MANE Select NP_002439.2:p.Gln195Leu