Canonical Allele Identifier: CA356138443
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862827T>C , CM000666.2:g.4862827T>C GRCh38
NC_000004.11:g.4864554T>C , CM000666.1:g.4864554T>C GRCh37
NC_000004.10:g.4915455T>C NCBI36
NG_008121.1:g.8163T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.596T>C MANE Select ENSP00000372170.4:p.Ile199Thr
ENST00000382723.4:c.596T>C ENSP00000372170.4:p.Ile199Thr
ENST00000468421.1:n.308T>C
NM_002448.3:c.596T>C MANE Select NP_002439.2:p.Ile199Thr