Canonical Allele Identifier: CA387162812

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124235658A>C (hg19) ; chr12:g.123751111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751111A>C , CM000674.2:g.123751111A>C	GRCh38
NC_000012.11:g.124235658A>C , CM000674.1:g.124235658A>C	GRCh37
NC_000012.10:g.122801611A>C	NCBI36
NG_012743.1:g.43794A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1937A>C MANE Select	ENSP00000332247.2:p.Glu646Ala
ENST00000540368.6:n.1968A>C
ENST00000674794.1:c.2025A>C
ENST00000675260.1:n.1212A>C
ENST00000675344.1:c.*958A>C	ENSP00000501953.1:n.*958A>C
ENST00000330342.7:c.1937A>C	ENSP00000332247.2:p.Glu646Ala
ENST00000534943.5:c.-224A>C	ENSP00000443726.1:n.-224A>C
NM_012463.3:c.1937A>C	NP_036595.2:p.Glu646Ala
XM_005253563.1:c.1936-1172A>C	XP_005253620.1:n.1936-1172A>C
XM_006719317.2:c.1424A>C	XP_006719380.1:p.Glu475Ala
XM_006719318.2:c.1115A>C	XP_006719381.1:p.Glu372Ala
XR_429088.1:n.2100A>C
XM_024448910.1:c.1936-1172A>C	XP_024304678.1:n.1936-1172A>C
XM_024448911.1:c.1424A>C	XP_024304679.1:p.Glu475Ala
XM_024448912.1:c.1115A>C	XP_024304680.1:p.Glu372Ala
NM_012463.4:c.1937A>C MANE Select	NP_036595.2:p.Glu646Ala