Canonical Allele Identifier: CA387151854

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123724748-A-T
• MyVariant Identifiers: chr12:g.124209295A>T (hg19) ; chr12:g.123724748A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123724748A>T , CM000674.2:g.123724748A>T	GRCh38
NC_000012.11:g.124209295A>T , CM000674.1:g.124209295A>T	GRCh37
NC_000012.10:g.122775248A>T	NCBI36
NG_012743.1:g.17431A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.389A>T MANE Select	ENSP00000332247.2:p.His130Leu
ENST00000540368.6:n.420A>T
ENST00000613625.5:c.389A>T	ENSP00000482236.1:p.His130Leu
ENST00000675344.1:c.389A>T	ENSP00000501953.1:p.His130Leu
ENST00000330342.7:c.389A>T	ENSP00000332247.2:p.His130Leu
ENST00000504192.2:c.-2A>T	ENSP00000443441.1:n.-2A>T
ENST00000540368.5:n.599A>T
ENST00000613625.4:c.389A>T	ENSP00000482236.1:p.His130Leu
NM_012463.3:c.389A>T	NP_036595.2:p.His130Leu
XM_005253563.1:c.389A>T	XP_005253620.1:p.His130Leu
XM_006719317.2:c.-36A>T	XP_006719380.1:n.-36A>T
XR_429088.1:n.552A>T
XM_024448910.1:c.389A>T	XP_024304678.1:p.His130Leu
XM_024448911.1:c.-36A>T	XP_024304679.1:n.-36A>T
NM_012463.4:c.389A>T MANE Select	NP_036595.2:p.His130Leu