Canonical Allele Identifier: CA356138428
Gene: MSX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862820C>G , CM000666.2:g.4862820C>G GRCh38
NC_000004.11:g.4864547C>G , CM000666.1:g.4864547C>G GRCh37
NC_000004.10:g.4915448C>G NCBI36
NG_008121.1:g.8156C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.589C>G MANE Select ENSP00000372170.4:p.Leu197Val
ENST00000382723.4:c.589C>G ENSP00000372170.4:p.Leu197Val
ENST00000468421.1:n.301C>G
NM_002448.3:c.589C>G MANE Select NP_002439.2:p.Leu197Val