Canonical Allele Identifier: CA2669788700
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v4: 4-4863269-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863269A>C , CM000666.2:g.4863269A>C GRCh38
NC_000004.11:g.4864996A>C , CM000666.1:g.4864996A>C GRCh37
NC_000004.10:g.4915897A>C NCBI36
NG_008121.1:g.8605A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*126A>C MANE Select ENSP00000372170.4:n.*126A>C
ENST00000382723.4:c.*126A>C ENSP00000372170.4:n.*126A>C
NM_002448.3:c.*126A>C MANE Select NP_002439.2:n.*126A>C
Search 100 bp 5'
Search 100 bp 3'