ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA254860
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9727
ClinVar RCV Id:
RCV000010378
RCV000853739
dbSNP Id:
rs199476121
MyVariant Identifiers:
chrMT:g.4136A>G (hg38)
PubMed:
PMID:1928099
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4136A>G , J01415.2:m.4136A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.830A>G
ENSP00000354687.2:p.Tyr277Cys
Search 100 bp 5'
Search 100 bp 3'