Canonical Allele Identifier: CA10703017
Gene: MIA3 HGNC NCBI

Linked Data

dbSNP Id: rs3008621
gnomAD v2: 1-222804046-G-A
gnomAD v3: 1-222630704-G-A
gnomAD v4: 1-222630704-G-A
MyVariant Identifiers: chr1:g.222804046G>A (hg19) chr1:g.222630704G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.222630704G>A , CM000663.2:g.222630704G>A GRCh38
NC_000001.10:g.222804046G>A , CM000663.1:g.222804046G>A GRCh37
NC_000001.9:g.220870669G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000344922.10:c.3169+315G>A MANE Select ENSP00000340900.5:n.3169+315G>A
ENST00000344507.1:c.1474+2010G>A ENSP00000341348.1:n.1474+2010G>A
ENST00000344922.9:c.3169+315G>A ENSP00000340900.5:n.3169+315G>A
ENST00000354906.7:c.1916+315G>A
ENST00000470521.1:n.3181+315G>A
NM_198551.3:c.3169+315G>A NP_940953.2:n.3169+315G>A
XM_005273121.3:c.3169+315G>A XP_005273178.1:n.3169+315G>A
XM_006711304.2:c.3169+315G>A XP_006711367.1:n.3169+315G>A
XM_011509513.1:c.3169+315G>A XP_011507815.1:n.3169+315G>A
NM_001324062.1:c.3169+315G>A NP_001310991.1:n.3169+315G>A
NM_001324063.1:c.3169+315G>A NP_001310992.1:n.3169+315G>A
NM_001324064.1:c.2677+315G>A NP_001310993.1:n.2677+315G>A
XM_006711304.4:c.3169+315G>A XP_006711367.3:n.3169+315G>A
XM_011509513.3:c.3169+315G>A XP_011507815.3:n.3169+315G>A
XM_017001243.2:c.2677+315G>A XP_016856732.1:n.2677+315G>A
NM_198551.4:c.3169+315G>A MANE Select NP_940953.2:n.3169+315G>A
NM_001324062.2:c.3169+315G>A NP_001310991.1:n.3169+315G>A
NM_001324063.2:c.3169+315G>A NP_001310992.1:n.3169+315G>A
NM_001324064.2:c.2677+315G>A NP_001310993.1:n.2677+315G>A
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