Canonical Allele Identifier: CA387154193

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123737084-T-C
• MyVariant Identifiers: chr12:g.124221631T>C (hg19) ; chr12:g.123737084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123737084T>C , CM000674.2:g.123737084T>C	GRCh38
NC_000012.11:g.124221631T>C , CM000674.1:g.124221631T>C	GRCh37
NC_000012.10:g.122787584T>C	NCBI36
NG_012743.1:g.29767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.851T>C MANE Select	ENSP00000332247.2:p.Leu284Ser
ENST00000540368.6:n.882T>C
ENST00000613625.5:c.851T>C	ENSP00000482236.1:p.Leu284Ser
ENST00000674794.1:c.939T>C
ENST00000675344.1:c.851T>C	ENSP00000501953.1:p.Leu284Ser
ENST00000330342.7:c.851T>C	ENSP00000332247.2:p.Leu284Ser
ENST00000504192.2:c.461T>C	ENSP00000443441.1:p.Leu154Ser
ENST00000540368.5:n.1061T>C
ENST00000545059.5:n.3487T>C
ENST00000613625.4:c.851T>C	ENSP00000482236.1:p.Leu284Ser
NM_012463.3:c.851T>C	NP_036595.2:p.Leu284Ser
XM_005253563.1:c.851T>C	XP_005253620.1:p.Leu284Ser
XM_006719317.2:c.338T>C	XP_006719380.1:p.Leu113Ser
XM_006719318.2:c.29T>C	XP_006719381.1:p.Leu10Ser
XR_429088.1:n.1014T>C
XM_024448910.1:c.851T>C	XP_024304678.1:p.Leu284Ser
XM_024448911.1:c.338T>C	XP_024304679.1:p.Leu113Ser
XM_024448912.1:c.29T>C	XP_024304680.1:p.Leu10Ser
NM_012463.4:c.851T>C MANE Select	NP_036595.2:p.Leu284Ser