Canonical Allele Identifier: CA2669788723
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863290-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863290A>G , CM000666.2:g.4863290A>G GRCh38
NC_000004.11:g.4865017A>G , CM000666.1:g.4865017A>G GRCh37
NC_000004.10:g.4915918A>G NCBI36
NG_008121.1:g.8626A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*147A>G MANE Select ENSP00000372170.4:n.*147A>G
ENST00000382723.4:c.*147A>G ENSP00000372170.4:n.*147A>G
NM_002448.3:c.*147A>G MANE Select NP_002439.2:n.*147A>G