Canonical Allele Identifier: CA356138450
Gene: MSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 982731
ClinVar RCV Id: RCV001262377
dbSNP Id: rs1346748006

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862830C>T , CM000666.2:g.4862830C>T GRCh38
NC_000004.11:g.4864557C>T , CM000666.1:g.4864557C>T GRCh37
NC_000004.10:g.4915458C>T NCBI36
NG_008121.1:g.8166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.599C>T MANE Select ENSP00000372170.4:p.Ala200Val
ENST00000382723.4:c.599C>T ENSP00000372170.4:p.Ala200Val
ENST00000468421.1:n.311C>T
NM_002448.3:c.599C>T MANE Select NP_002439.2:p.Ala200Val