Canonical Allele Identifier: CA438366014
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4862789-G-A
MyVariant Identifiers: chr4:g.4864516G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862789G>A , CM000666.2:g.4862789G>A GRCh38
NC_000004.11:g.4864516G>A , CM000666.1:g.4864516G>A GRCh37
NC_000004.10:g.4915417G>A NCBI36
NG_008121.1:g.8125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.558G>A MANE Select ENSP00000372170.4:p.Ala186=
ENST00000382723.4:c.558G>A ENSP00000372170.4:p.Ala186=
ENST00000468421.1:n.270G>A
NM_002448.3:c.558G>A MANE Select NP_002439.2:p.Ala186=