Canonical Allele Identifier: CA795529128
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1454231234
gnomAD v3: 4-4862362-A-G
gnomAD v4: 4-4862362-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862362A>G , CM000666.2:g.4862362A>G GRCh38
NC_000004.11:g.4864089A>G , CM000666.1:g.4864089A>G GRCh37
NC_000004.10:g.4914990A>G NCBI36
NG_008121.1:g.7698A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-339A>G MANE Select ENSP00000372170.4:n.470-339A>G
ENST00000382723.4:c.470-339A>G ENSP00000372170.4:n.470-339A>G
NM_002448.3:c.470-339A>G MANE Select NP_002439.2:n.470-339A>G