Canonical Allele Identifier: CA387156548

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228808A>C (hg19) ; chr12:g.123744261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744261A>C , CM000674.2:g.123744261A>C	GRCh38
NC_000012.11:g.124228808A>C , CM000674.1:g.124228808A>C	GRCh37
NC_000012.10:g.122794761A>C	NCBI36
NG_012743.1:g.36944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1250A>C MANE Select	ENSP00000332247.2:p.His417Pro
ENST00000540368.6:n.1281A>C
ENST00000674794.1:c.1338A>C
ENST00000675260.1:n.525A>C
ENST00000675344.1:c.*271A>C	ENSP00000501953.1:n.*271A>C
ENST00000330342.7:c.1250A>C	ENSP00000332247.2:p.His417Pro
ENST00000504192.2:c.860A>C	ENSP00000443441.1:p.His287Pro
ENST00000536426.1:n.267A>C
ENST00000545059.5:n.3886A>C
NM_012463.3:c.1250A>C	NP_036595.2:p.His417Pro
XM_005253563.1:c.1250A>C	XP_005253620.1:p.His417Pro
XM_006719317.2:c.737A>C	XP_006719380.1:p.His246Pro
XM_006719318.2:c.428A>C	XP_006719381.1:p.His143Pro
XR_429088.1:n.1413A>C
XM_024448910.1:c.1250A>C	XP_024304678.1:p.His417Pro
XM_024448911.1:c.737A>C	XP_024304679.1:p.His246Pro
XM_024448912.1:c.428A>C	XP_024304680.1:p.His143Pro
NM_012463.4:c.1250A>C MANE Select	NP_036595.2:p.His417Pro