Canonical Allele Identifier: CA356137469
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs28928890
gnomAD v2: 4-4861877-A-G
gnomAD v3: 4-4860150-A-G
gnomAD v4: 4-4860150-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4860150A>G , CM000666.2:g.4860150A>G GRCh38
NC_000004.11:g.4861877A>G , CM000666.1:g.4861877A>G GRCh37
NC_000004.10:g.4912778A>G NCBI36
NG_008121.1:g.5486A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.251A>G MANE Select ENSP00000372170.4:p.Glu84Gly
ENST00000382723.4:c.251A>G ENSP00000372170.4:p.Glu84Gly
NM_002448.3:c.251A>G MANE Select NP_002439.2:p.Glu84Gly