Canonical Allele Identifier: CA245200269

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs141843766
• gnomAD v4: 12-123743916-C-T
• MyVariant Identifiers: chr12:g.124228463C>T (hg19) ; chr12:g.123743916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743916C>T , CM000674.2:g.123743916C>T	GRCh38
NC_000012.11:g.124228463C>T , CM000674.1:g.124228463C>T	GRCh37
NC_000012.10:g.122794416C>T	NCBI36
NG_012743.1:g.36599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1170C>T MANE Select	ENSP00000332247.2:p.Ser390=
ENST00000540368.6:n.1201C>T
ENST00000674794.1:c.1258C>T
ENST00000675260.1:n.445C>T
ENST00000675344.1:c.*191C>T	ENSP00000501953.1:n.*191C>T
ENST00000330342.7:c.1170C>T	ENSP00000332247.2:p.Ser390=
ENST00000504192.2:c.780C>T	ENSP00000443441.1:p.Ser260=
ENST00000536426.1:n.187C>T
ENST00000545059.5:n.3806C>T
NM_012463.3:c.1170C>T	NP_036595.2:p.Ser390=
XM_005253563.1:c.1170C>T	XP_005253620.1:p.Ser390=
XM_006719317.2:c.657C>T	XP_006719380.1:p.Ser219=
XM_006719318.2:c.348C>T	XP_006719381.1:p.Ser116=
XR_429088.1:n.1333C>T
XM_024448910.1:c.1170C>T	XP_024304678.1:p.Ser390=
XM_024448911.1:c.657C>T	XP_024304679.1:p.Ser219=
XM_024448912.1:c.348C>T	XP_024304680.1:p.Ser116=
NM_012463.4:c.1170C>T MANE Select	NP_036595.2:p.Ser390=