Canonical Allele Identifier: CA2832979
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs104893854
gnomAD v2: 4-4862084-C-G
gnomAD v4: 4-4860357-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860357C>G , CM000666.2:g.4860357C>G GRCh38
NC_000004.11:g.4862084C>G , CM000666.1:g.4862084C>G GRCh37
NC_000004.10:g.4912985C>G NCBI36
NG_008121.1:g.5693C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.458C>G MANE Select ENSP00000372170.4:p.Pro153Arg
ENST00000382723.4:c.458C>G ENSP00000372170.4:p.Pro153Arg
NM_002448.3:c.458C>G MANE Select NP_002439.2:p.Pro153Arg