Canonical Allele Identifier: CA356138275
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1256847116
gnomAD v2: 4-4864474-C-A
gnomAD v4: 4-4862747-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862747C>A , CM000666.2:g.4862747C>A GRCh38
NC_000004.11:g.4864474C>A , CM000666.1:g.4864474C>A GRCh37
NC_000004.10:g.4915375C>A NCBI36
NG_008121.1:g.8083C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.516C>A MANE Select ENSP00000372170.4:p.Asn172Lys
ENST00000382723.4:c.516C>A ENSP00000372170.4:p.Asn172Lys
ENST00000468421.1:n.228C>A
NM_002448.3:c.516C>A MANE Select NP_002439.2:p.Asn172Lys