Canonical Allele Identifier: CA356138876
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1737958857
gnomAD v4: 4-4863033-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863033G>A , CM000666.2:g.4863033G>A GRCh38
NC_000004.11:g.4864760G>A , CM000666.1:g.4864760G>A GRCh37
NC_000004.10:g.4915661G>A NCBI36
NG_008121.1:g.8369G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.802G>A MANE Select ENSP00000372170.4:p.Gly268Ser
ENST00000382723.4:c.802G>A ENSP00000372170.4:p.Gly268Ser
NM_002448.3:c.802G>A MANE Select NP_002439.2:p.Gly268Ser