Canonical Allele Identifier: CA356138414
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4862815-A-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.584A>C MANE Select ENSP00000372170.4:p.Gln195Pro
ENST00000382723.4:c.584A>C ENSP00000372170.4:p.Gln195Pro
ENST00000468421.1:n.296A>C
NM_002448.3:c.584A>C MANE Select NP_002439.2:p.Gln195Pro