ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337099628
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693519
ClinVar RCV Id:
RCV000854894
dbSNP Id:
rs2853501
MyVariant Identifiers:
chrMT:g.13105A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13105A>G , J01415.2:m.13105A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.769A>G
ENSP00000354813.2:p.Ile257Val
Search 100 bp 5'
Search 100 bp 3'