Canonical Allele Identifier: CA1435013918
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1442321570
gnomAD v4: 4-4863291-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863291C>A , CM000666.2:g.4863291C>A GRCh38
NC_000004.11:g.4865018C>A , CM000666.1:g.4865018C>A GRCh37
NC_000004.10:g.4915919C>A NCBI36
NG_008121.1:g.8627C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*148C>A MANE Select ENSP00000372170.4:n.*148C>A
ENST00000382723.4:c.*148C>A ENSP00000372170.4:n.*148C>A
NM_002448.3:c.*148C>A MANE Select NP_002439.2:n.*148C>A