ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA16603314
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377244
ClinVar RCV Id:
RCV000429483
dbSNP Id:
rs386829190
MyVariant Identifiers:
chrMT:g.13722A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13722A>G , J01415.2:m.13722A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1386A>G
ENSP00000354813.2:p.Leu462=
Search 100 bp 5'
Search 100 bp 3'