Canonical Allele Identifier: CA2669788721
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863289-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863289C>A , CM000666.2:g.4863289C>A GRCh38
NC_000004.11:g.4865016C>A , CM000666.1:g.4865016C>A GRCh37
NC_000004.10:g.4915917C>A NCBI36
NG_008121.1:g.8625C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*146C>A MANE Select ENSP00000372170.4:n.*146C>A
ENST00000382723.4:c.*146C>A ENSP00000372170.4:n.*146C>A
NM_002448.3:c.*146C>A MANE Select NP_002439.2:n.*146C>A