Canonical Allele Identifier: CA6861624

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123726211T>C , CM000674.2:g.123726211T>C	GRCh38
NC_000012.11:g.124210758T>C , CM000674.1:g.124210758T>C	GRCh37
NC_000012.10:g.122776711T>C	NCBI36
NG_012743.1:g.18894T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.447T>C MANE Select	NP_036595.2:p.Tyr149=
ENST00000330342.8:c.447T>C MANE Select	ENSP00000332247.2:p.Tyr149=
NM_012463.3:c.447T>C	NP_036595.2:p.Tyr149=
ENST00000330342.7:c.447T>C	ENSP00000332247.2:p.Tyr149=
ENST00000504192.2:c.57T>C	ENSP00000443441.1:p.Tyr19=
ENST00000540368.5:n.657T>C
ENST00000540368.6:n.478T>C
ENST00000613625.4:c.447T>C	ENSP00000482236.1:p.Tyr149=
ENST00000613625.5:c.447T>C	ENSP00000482236.1:p.Tyr149=
ENST00000675344.1:c.447T>C	ENSP00000501953.1:p.Tyr149=
XM_005253563.1:c.447T>C	XP_005253620.1:p.Tyr149=
XM_006719317.2:c.8+1420T>C	XP_006719380.1:n.8+1420T>C
XM_024448910.1:c.447T>C	XP_024304678.1:p.Tyr149=
XM_024448911.1:c.8+1420T>C	XP_024304679.1:n.8+1420T>C
XR_429088.1:n.610T>C