Canonical Allele Identifier: CA1058779133
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1737944385
gnomAD v3: 4-4862676-G-C
gnomAD v4: 4-4862676-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862676G>C , CM000666.2:g.4862676G>C GRCh38
NC_000004.11:g.4864403G>C , CM000666.1:g.4864403G>C GRCh37
NC_000004.10:g.4915304G>C NCBI36
NG_008121.1:g.8012G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.470-25G>C MANE Select ENSP00000372170.4:n.470-25G>C
ENST00000382723.4:c.470-25G>C ENSP00000372170.4:n.470-25G>C
ENST00000468421.1:n.182-25G>C
NM_002448.3:c.470-25G>C MANE Select NP_002439.2:n.470-25G>C
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