Canonical Allele Identifier: CA438365663
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860124-C-A
MyVariant Identifiers: chr4:g.4861851C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860124C>A , CM000666.2:g.4860124C>A GRCh38
NC_000004.11:g.4861851C>A , CM000666.1:g.4861851C>A GRCh37
NC_000004.10:g.4912752C>A NCBI36
NG_008121.1:g.5460C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.225C>A MANE Select ENSP00000372170.4:p.Ala75=
ENST00000382723.4:c.225C>A ENSP00000372170.4:p.Ala75=
NM_002448.3:c.225C>A MANE Select NP_002439.2:p.Ala75=