Canonical Allele Identifier: CA10636731

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123758223T>C , CM000674.2:g.123758223T>C	GRCh38
NC_000012.11:g.124242770T>C , CM000674.1:g.124242770T>C	GRCh37
NC_000012.10:g.122808723T>C	NCBI36
NG_012743.1:g.50906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.*191T>C MANE Select	ENSP00000332247.2:n.*191T>C
ENST00000675344.1:c.*1783T>C	ENSP00000501953.1:n.*1783T>C
ENST00000330342.7:c.*191T>C	ENSP00000332247.2:n.*191T>C
ENST00000543687.1:n.957T>C
NM_012463.3:c.*191T>C	NP_036595.2:n.*191T>C
XM_005253563.1:c.*191T>C	XP_005253620.1:n.*191T>C
XM_006719317.2:c.*191T>C	XP_006719380.1:n.*191T>C
XM_006719318.2:c.*191T>C	XP_006719381.1:n.*191T>C
XR_429088.1:n.2925T>C
XM_024448910.1:c.*191T>C	XP_024304678.1:n.*191T>C
XM_024448911.1:c.*191T>C	XP_024304679.1:n.*191T>C
XM_024448912.1:c.*191T>C	XP_024304680.1:n.*191T>C
NM_012463.4:c.*191T>C MANE Select	NP_036595.2:n.*191T>C