Canonical Allele Identifier: CA2669788675
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863247-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863247A>C , CM000666.2:g.4863247A>C GRCh38
NC_000004.11:g.4864974A>C , CM000666.1:g.4864974A>C GRCh37
NC_000004.10:g.4915875A>C NCBI36
NG_008121.1:g.8583A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*104A>C MANE Select ENSP00000372170.4:n.*104A>C
ENST00000382723.4:c.*104A>C ENSP00000372170.4:n.*104A>C
NM_002448.3:c.*104A>C MANE Select NP_002439.2:n.*104A>C