Canonical Allele Identifier: CA117976
Gene: SLC25A12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.171787637T>C
GRCh37 chr2:g.172644147T>C
Revel Score:
ENST00000422440 (MANE Select) 0.871
ENST00000392592 0.871
gnomAD v2:
2:172644147 T / C
gnomAD v4:
chr2-171787637-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000006523
ClinVar Variation:
6148
dbSNP:
121434396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171787637T>C , CM000664.2:g.171787637T>C GRCh38
NC_000002.11:g.172644147T>C , CM000664.1:g.172644147T>C GRCh37
NC_000002.10:g.172352393T>C NCBI36
NG_011781.1:g.111667A>G
NG_011781.2:g.111667A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000422440.7:c.1769A>G MANE Select ENSP00000388658.2:p.Gln590Arg
ENST00000263812.8:c.*1389A>G ENSP00000263812.4:n.*1389A>G
ENST00000422440.6:c.1769A>G ENSP00000388658.2:p.Gln590Arg
ENST00000472070.1:n.1179A>G
NM_003705.4:c.1769A>G NP_003696.2:p.Gln590Arg
NR_047549.1:n.1745A>G
XM_005246923.3:c.1718A>G XP_005246980.1:p.Gln573Arg
XM_011512069.1:c.1744+152A>G XP_011510371.1:n.1744+152A>G
XM_011512070.1:c.1496A>G XP_011510372.1:p.Gln499Arg
XR_923577.1:n.2692-5887T>C
XM_011512070.3:c.1496A>G XP_011510372.1:p.Gln499Arg
NM_003705.5:c.1769A>G MANE Select NP_003696.2:p.Gln590Arg
NR_047549.2:n.1683A>G
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