Canonical Allele Identifier: CA356137453
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4860143-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860143C>A , CM000666.2:g.4860143C>A GRCh38
NC_000004.11:g.4861870C>A , CM000666.1:g.4861870C>A GRCh37
NC_000004.10:g.4912771C>A NCBI36
NG_008121.1:g.5479C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.244C>A MANE Select ENSP00000372170.4:p.Pro82Thr
ENST00000382723.4:c.244C>A ENSP00000372170.4:p.Pro82Thr
NM_002448.3:c.244C>A MANE Select NP_002439.2:p.Pro82Thr