Canonical Allele Identifier: CA1058779519
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1015129002
gnomAD v3: 4-4863222-G-A
gnomAD v4: 4-4863222-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863222G>A , CM000666.2:g.4863222G>A GRCh38
NC_000004.11:g.4864949G>A , CM000666.1:g.4864949G>A GRCh37
NC_000004.10:g.4915850G>A NCBI36
NG_008121.1:g.8558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*79G>A MANE Select ENSP00000372170.4:n.*79G>A
ENST00000382723.4:c.*79G>A ENSP00000372170.4:n.*79G>A
NM_002448.3:c.*79G>A MANE Select NP_002439.2:n.*79G>A
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