Canonical Allele Identifier: CA2669788483
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4862652-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862652C>A , CM000666.2:g.4862652C>A GRCh38
NC_000004.11:g.4864379C>A , CM000666.1:g.4864379C>A GRCh37
NC_000004.10:g.4915280C>A NCBI36
NG_008121.1:g.7988C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-49C>A MANE Select ENSP00000372170.4:n.470-49C>A
ENST00000382723.4:c.470-49C>A ENSP00000372170.4:n.470-49C>A
ENST00000468421.1:n.181+44C>A
NM_002448.3:c.470-49C>A MANE Select NP_002439.2:n.470-49C>A