Canonical Allele Identifier: CA6861455
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425021
dbSNP Id: rs752689489

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123712591C>T , CM000674.2:g.123712591C>T GRCh38
NC_000012.11:g.124197138C>T , CM000674.1:g.124197138C>T GRCh37
NC_000012.10:g.122763091C>T NCBI36
NG_012743.1:g.5274C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.26C>T MANE Select ENSP00000332247.2:p.Thr9Ile
ENST00000540368.6:n.57C>T
ENST00000613625.5:c.26C>T ENSP00000482236.1:p.Thr9Ile
ENST00000675344.1:c.26C>T ENSP00000501953.1:p.Thr9Ile
ENST00000676034.1:n.9C>T
ENST00000330342.7:c.26C>T ENSP00000332247.2:p.Thr9Ile
ENST00000540368.5:n.236C>T
ENST00000613625.4:c.26C>T ENSP00000482236.1:p.Thr9Ile
NM_012463.3:c.26C>T NP_036595.2:p.Thr9Ile
XM_005253563.1:c.26C>T XP_005253620.1:p.Thr9Ile
XR_429088.1:n.189C>T
XM_024448910.1:c.26C>T XP_024304678.1:p.Thr9Ile
NM_012463.4:c.26C>T MANE Select NP_036595.2:p.Thr9Ile