Canonical Allele Identifier: CA387156471

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228798G>C (hg19) ; chr12:g.123744251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744251G>C , CM000674.2:g.123744251G>C	GRCh38
NC_000012.11:g.124228798G>C , CM000674.1:g.124228798G>C	GRCh37
NC_000012.10:g.122794751G>C	NCBI36
NG_012743.1:g.36934G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1240G>C MANE Select	ENSP00000332247.2:p.Asp414His
ENST00000540368.6:n.1271G>C
ENST00000674794.1:c.1328G>C
ENST00000675260.1:n.515G>C
ENST00000675344.1:c.*261G>C	ENSP00000501953.1:n.*261G>C
ENST00000330342.7:c.1240G>C	ENSP00000332247.2:p.Asp414His
ENST00000504192.2:c.850G>C	ENSP00000443441.1:p.Asp284His
ENST00000536426.1:n.257G>C
ENST00000545059.5:n.3876G>C
NM_012463.3:c.1240G>C	NP_036595.2:p.Asp414His
XM_005253563.1:c.1240G>C	XP_005253620.1:p.Asp414His
XM_006719317.2:c.727G>C	XP_006719380.1:p.Asp243His
XM_006719318.2:c.418G>C	XP_006719381.1:p.Asp140His
XR_429088.1:n.1403G>C
XM_024448910.1:c.1240G>C	XP_024304678.1:p.Asp414His
XM_024448911.1:c.727G>C	XP_024304679.1:p.Asp243His
XM_024448912.1:c.418G>C	XP_024304680.1:p.Asp140His
NM_012463.4:c.1240G>C MANE Select	NP_036595.2:p.Asp414His