Canonical Allele Identifier: CA6861954
Community Standard Title: NM_012463.4(ATP6V0A2):c.1515-12T>G
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744870T>G , CM000674.2:g.123744870T>G GRCh38
NC_000012.11:g.124229417T>G , CM000674.1:g.124229417T>G GRCh37
NC_000012.10:g.122795370T>G NCBI36
NG_012743.1:g.37553T>G

Transcript Alleles

HGVS Amino-acid Change
NM_012463.4:c.1515-12T>G MANE Select NP_036595.2:n.1515-12T>G
ENST00000330342.8:c.1515-12T>G MANE Select ENSP00000332247.2:n.1515-12T>G
NM_012463.3:c.1515-12T>G NP_036595.2:n.1515-12T>G
ENST00000330342.7:c.1515-12T>G ENSP00000332247.2:n.1515-12T>G
ENST00000536426.1:n.532-12T>G
ENST00000540368.6:n.1546-12T>G
ENST00000545059.5:n.4151-12T>G
ENST00000674794.1:c.1603-12T>G
ENST00000675260.1:n.790-12T>G
ENST00000675344.1:c.*536-12T>G ENSP00000501953.1:n.*536-12T>G
XM_005253563.1:c.1515-12T>G XP_005253620.1:n.1515-12T>G
XM_006719317.2:c.1002-12T>G XP_006719380.1:n.1002-12T>G
XM_006719318.2:c.693-12T>G XP_006719381.1:n.693-12T>G
XM_024448910.1:c.1515-12T>G XP_024304678.1:n.1515-12T>G
XM_024448911.1:c.1002-12T>G XP_024304679.1:n.1002-12T>G
XM_024448912.1:c.693-12T>G XP_024304680.1:n.693-12T>G
XR_429088.1:n.1678-12T>G