Canonical Allele Identifier: CA6861673

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123727864C>T , CM000674.2:g.123727864C>T	GRCh38
NC_000012.11:g.124212411C>T , CM000674.1:g.124212411C>T	GRCh37
NC_000012.10:g.122778364C>T	NCBI36
NG_012743.1:g.20547C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.603C>T MANE Select	NP_036595.2:p.Ile201=
ENST00000330342.8:c.603C>T MANE Select	ENSP00000332247.2:p.Ile201=
NM_012463.3:c.603C>T	NP_036595.2:p.Ile201=
ENST00000330342.7:c.603C>T	ENSP00000332247.2:p.Ile201=
ENST00000504192.2:c.213C>T	ENSP00000443441.1:p.Ile71=
ENST00000540368.5:n.813C>T
ENST00000540368.6:n.634C>T
ENST00000613625.4:c.603C>T	ENSP00000482236.1:p.Ile201=
ENST00000613625.5:c.603C>T	ENSP00000482236.1:p.Ile201=
ENST00000674794.1:c.43C>T
ENST00000675344.1:c.603C>T	ENSP00000501953.1:p.Ile201=
XM_005253563.1:c.603C>T	XP_005253620.1:p.Ile201=
XM_006719317.2:c.90C>T	XP_006719380.1:p.Ile30=
XM_024448910.1:c.603C>T	XP_024304678.1:p.Ile201=
XM_024448911.1:c.90C>T	XP_024304679.1:p.Ile30=
XR_429088.1:n.766C>T