ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414813206
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693444
ClinVar RCV Id:
RCV000854815
dbSNP Id:
rs1603223748
MyVariant Identifiers:
chrMT:g.12448T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12448T>A , J01415.2:m.12448T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.112T>A
ENSP00000354813.2:p.Ser38Thr
Search 100 bp 5'
Search 100 bp 3'