Canonical Allele Identifier: CA438366047
Gene: MSX1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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