Canonical Allele Identifier: CA438365666
Gene: MSX1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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