Canonical Allele Identifier: CA2669788697
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863266-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863266T>C , CM000666.2:g.4863266T>C GRCh38
NC_000004.11:g.4864993T>C , CM000666.1:g.4864993T>C GRCh37
NC_000004.10:g.4915894T>C NCBI36
NG_008121.1:g.8602T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*123T>C MANE Select ENSP00000372170.4:n.*123T>C
ENST00000382723.4:c.*123T>C ENSP00000372170.4:n.*123T>C
NM_002448.3:c.*123T>C MANE Select NP_002439.2:n.*123T>C