Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: CA337098270

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693122

ClinVar RCV Id: RCV000854473

dbSNP Id: rs374870159

COSMIC: COSM1155696 COSM1155697

MyVariant Identifiers: chrMT:g.9196G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9196G>A , J01415.2:m.9196G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.670G>A	ENSP00000354632.2:p.Asp224Asn

Search 100 bp 5'

Search 100 bp 3'