ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337099661
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693540
ClinVar RCV Id:
RCV000854915
dbSNP Id:
rs2853502
MyVariant Identifiers:
chrMT:g.13276A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13276A>G , J01415.2:m.13276A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.940A>G
ENSP00000354813.2:p.Ile314Val
Search 100 bp 5'
Search 100 bp 3'