Canonical Allele Identifier: CA91672697
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1053089806
gnomAD v3: 4-4863272-T-C
gnomAD v4: 4-4863272-T-C
MyVariant Identifiers: chr4:g.4864999T>C (hg19) chr4:g.4863272T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863272T>C , CM000666.2:g.4863272T>C GRCh38
NC_000004.11:g.4864999T>C , CM000666.1:g.4864999T>C GRCh37
NC_000004.10:g.4915900T>C NCBI36
NG_008121.1:g.8608T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*129T>C MANE Select ENSP00000372170.4:n.*129T>C
ENST00000382723.4:c.*129T>C ENSP00000372170.4:n.*129T>C
NM_002448.3:c.*129T>C MANE Select NP_002439.2:n.*129T>C
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