Canonical Allele Identifier: CA2669788647
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863221-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863221C>G , CM000666.2:g.4863221C>G GRCh38
NC_000004.11:g.4864948C>G , CM000666.1:g.4864948C>G GRCh37
NC_000004.10:g.4915849C>G NCBI36
NG_008121.1:g.8557C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*78C>G MANE Select ENSP00000372170.4:n.*78C>G
ENST00000382723.4:c.*78C>G ENSP00000372170.4:n.*78C>G
NM_002448.3:c.*78C>G MANE Select NP_002439.2:n.*78C>G