Canonical Allele Identifier: CA2669788651
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs2108778809
gnomAD v4: 4-4863223-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863223G>A , CM000666.2:g.4863223G>A GRCh38
NC_000004.11:g.4864950G>A , CM000666.1:g.4864950G>A GRCh37
NC_000004.10:g.4915851G>A NCBI36
NG_008121.1:g.8559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*80G>A MANE Select ENSP00000372170.4:n.*80G>A
ENST00000382723.4:c.*80G>A ENSP00000372170.4:n.*80G>A
NM_002448.3:c.*80G>A MANE Select NP_002439.2:n.*80G>A