Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA414796844

Gene: MT-ATP6 HGNC NCBI

Linked Data

dbSNP Id: rs1556423500

MyVariant Identifiers: chrMT:g.8594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8594T>C , J01415.2:m.8594T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361899.2:c.68T>C	ENSP00000354632.2:p.Ile23Thr

Search 100 bp 5'

Search 100 bp 3'