ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337099778
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693593
ClinVar RCV Id:
RCV000854971
dbSNP Id:
rs879489195
COSMIC:
COSM1132235
MyVariant Identifiers:
chrMT:g.13711G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13711G>A , J01415.2:m.13711G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.1375G>A
ENSP00000354813.2:p.Ala459Thr
Search 100 bp 5'
Search 100 bp 3'