Canonical Allele Identifier: CA6861576
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 307579
dbSNP Id: rs563333869

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123724671C>T , CM000674.2:g.123724671C>T GRCh38
NC_000012.11:g.124209218C>T , CM000674.1:g.124209218C>T GRCh37
NC_000012.10:g.122775171C>T NCBI36
NG_012743.1:g.17354C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.312C>T MANE Select ENSP00000332247.2:p.Leu104=
ENST00000540368.6:n.343C>T
ENST00000613625.5:c.312C>T ENSP00000482236.1:p.Leu104=
ENST00000675344.1:c.312C>T ENSP00000501953.1:p.Leu104=
ENST00000330342.7:c.312C>T ENSP00000332247.2:p.Leu104=
ENST00000504192.2:c.-79C>T ENSP00000443441.1:n.-79C>T
ENST00000540368.5:n.522C>T
ENST00000613625.4:c.312C>T ENSP00000482236.1:p.Leu104=
NM_012463.3:c.312C>T NP_036595.2:p.Leu104=
XM_005253563.1:c.312C>T XP_005253620.1:p.Leu104=
XR_429088.1:n.475C>T
XM_024448910.1:c.312C>T XP_024304678.1:p.Leu104=
NM_012463.4:c.312C>T MANE Select NP_036595.2:p.Leu104=