Canonical Allele Identifier: CA438366049
Gene: MSX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.4864549G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862822G>C , CM000666.2:g.4862822G>C GRCh38
NC_000004.11:g.4864549G>C , CM000666.1:g.4864549G>C GRCh37
NC_000004.10:g.4915450G>C NCBI36
NG_008121.1:g.8158G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.591G>C MANE Select ENSP00000372170.4:p.Leu197=
ENST00000382723.4:c.591G>C ENSP00000372170.4:p.Leu197=
ENST00000468421.1:n.303G>C
NM_002448.3:c.591G>C MANE Select NP_002439.2:p.Leu197=