Canonical Allele Identifier: CA91672612
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1023877631
gnomAD v2: 4-4864935-G-A
gnomAD v3: 4-4863208-G-A
gnomAD v4: 4-4863208-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863208G>A , CM000666.2:g.4863208G>A GRCh38
NC_000004.11:g.4864935G>A , CM000666.1:g.4864935G>A GRCh37
NC_000004.10:g.4915836G>A NCBI36
NG_008121.1:g.8544G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*65G>A MANE Select ENSP00000372170.4:n.*65G>A
ENST00000382723.4:c.*65G>A ENSP00000372170.4:n.*65G>A
NM_002448.3:c.*65G>A MANE Select NP_002439.2:n.*65G>A