Canonical Allele Identifier: CA2833063
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs765893159
ExAC: 4:4864466 A / G
gnomAD v2: 4-4864466-A-G
MyVariant Identifiers: chr4:g.4864466A>G (hg19) chr4:g.4862739A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862739A>G , CM000666.2:g.4862739A>G GRCh38
NC_000004.11:g.4864466A>G , CM000666.1:g.4864466A>G GRCh37
NC_000004.10:g.4915367A>G NCBI36
NG_008121.1:g.8075A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.508A>G MANE Select ENSP00000372170.4:p.Lys170Glu
ENST00000382723.4:c.508A>G ENSP00000372170.4:p.Lys170Glu
ENST00000468421.1:n.220A>G
NM_002448.3:c.508A>G MANE Select NP_002439.2:p.Lys170Glu
Search 100 bp 5'
Search 100 bp 3'