Canonical Allele Identifier: CA9184243
Gene: RDH8 HGNC NCBI
COSMIC:
COSM3756249 (not active)
COSM3756250 (not active)
MyVariant.info:
GRCh38 chr19:g.10021323T>C
GRCh37 chr19:g.10131999T>C
Revel Score:
ENST00000171214 0.174
gnomAD v2:
19:10131999 T / C
gnomAD v3:
19:10021323 T / C
gnomAD v4:
chr19-10021323-T-C
Joint Max Group AF 0.6608836 (SAS)
Genomes Max Group AF 0.65739071 (SAS)
Exomes Max Group AF 0.66012398 (SAS)
dbSNP:
1644731
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10021323T>C , CM000681.2:g.10021323T>C GRCh38
NC_000019.9:g.10131999T>C , CM000681.1:g.10131999T>C GRCh37
NC_000019.8:g.9992999T>C NCBI36
NG_033979.1:g.13075T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000591589.3:c.605T>C MANE Select ENSP00000466058.2:p.Met202Thr
ENST00000651512.1:c.665T>C ENSP00000498711.1:p.Met222Thr
ENST00000587782.1:c.50T>C
ENST00000591589.1:c.665T>C ENSP00000466058.1:p.Met222Thr
NM_015725.2:c.665T>C NP_056540.2:p.Met222Thr
NM_015725.3:c.605T>C NP_056540.3:p.Met202Thr
NM_015725.4:c.605T>C MANE Select NP_056540.3:p.Met202Thr
Search 100 bp 5'
Search 100 bp 3'