ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337099772
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693592
ClinVar RCV Id:
RCV000854969
dbSNP Id:
rs386829187
MyVariant Identifiers:
chrMT:g.13681A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13681A>T , J01415.2:m.13681A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1345A>T
ENSP00000354813.2:p.Thr449Ser
Search 100 bp 5'
Search 100 bp 3'