Canonical Allele Identifier: CA1058779525
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1553878202
gnomAD v3: 4-4863258-G-C
gnomAD v4: 4-4863258-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4863258G>C , CM000666.2:g.4863258G>C GRCh38
NC_000004.11:g.4864985G>C , CM000666.1:g.4864985G>C GRCh37
NC_000004.10:g.4915886G>C NCBI36
NG_008121.1:g.8594G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.*115G>C MANE Select ENSP00000372170.4:n.*115G>C
ENST00000382723.4:c.*115G>C ENSP00000372170.4:n.*115G>C
NM_002448.3:c.*115G>C MANE Select NP_002439.2:n.*115G>C
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