Canonical Allele Identifier: CA683580
Gene: ID3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23559007T>C
GRCh37 chr1:g.23885498T>C
Revel Score:
ENST00000374561 (MANE Select) 0.044
gnomAD v2:
1:23885498 T / C
gnomAD v3:
1:23559007 T / C
gnomAD v4:
chr1-23559007-T-C
Joint Max Group AF 0.97055163 (EAS)
Genomes Max Group AF 0.95135085 (EAS)
Exomes Max Group AF 0.97063577 (EAS)
dbSNP:
11574
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23559007T>C , CM000663.2:g.23559007T>C GRCh38
NC_000001.10:g.23885498T>C , CM000663.1:g.23885498T>C GRCh37
NC_000001.9:g.23758085T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374561.6:c.313A>G MANE Select ENSP00000363689.5:p.Thr105Ala
ENST00000374561.5:c.313A>G ENSP00000363689.5:p.Thr105Ala
ENST00000463312.1:n.69A>G
ENST00000486541.1:n.330A>G
NM_002167.4:c.313A>G NP_002158.3:p.Thr105Ala
NM_002167.5:c.313A>G MANE Select NP_002158.3:p.Thr105Ala
Search 100 bp 5'
Search 100 bp 3'