Canonical Allele Identifier: CA91671881
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1023858128
gnomAD v2: 4-4864467-A-G
gnomAD v4: 4-4862740-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862740A>G , CM000666.2:g.4862740A>G GRCh38
NC_000004.11:g.4864467A>G , CM000666.1:g.4864467A>G GRCh37
NC_000004.10:g.4915368A>G NCBI36
NG_008121.1:g.8076A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.509A>G MANE Select ENSP00000372170.4:p.Lys170Arg
ENST00000382723.4:c.509A>G ENSP00000372170.4:p.Lys170Arg
ENST00000468421.1:n.221A>G
NM_002448.3:c.509A>G MANE Select NP_002439.2:p.Lys170Arg