Canonical Allele Identifier: CA438366002
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs2108778615
gnomAD v4: 4-4862780-G-A
MyVariant Identifiers: chr4:g.4864507G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862780G>A , CM000666.2:g.4862780G>A GRCh38
NC_000004.11:g.4864507G>A , CM000666.1:g.4864507G>A GRCh37
NC_000004.10:g.4915408G>A NCBI36
NG_008121.1:g.8116G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.549G>A MANE Select ENSP00000372170.4:p.Gln183=
ENST00000382723.4:c.549G>A ENSP00000372170.4:p.Gln183=
ENST00000468421.1:n.261G>A
NM_002448.3:c.549G>A MANE Select NP_002439.2:p.Gln183=
Search 100 bp 5'
Search 100 bp 3'