Canonical Allele Identifier: CA387151801

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124209282A>C (hg19) ; chr12:g.123724735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123724735A>C , CM000674.2:g.123724735A>C	GRCh38
NC_000012.11:g.124209282A>C , CM000674.1:g.124209282A>C	GRCh37
NC_000012.10:g.122775235A>C	NCBI36
NG_012743.1:g.17418A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.376A>C MANE Select	ENSP00000332247.2:p.Ile126Leu
ENST00000540368.6:n.407A>C
ENST00000613625.5:c.376A>C	ENSP00000482236.1:p.Ile126Leu
ENST00000675344.1:c.376A>C	ENSP00000501953.1:p.Ile126Leu
ENST00000330342.7:c.376A>C	ENSP00000332247.2:p.Ile126Leu
ENST00000504192.2:c.-15A>C	ENSP00000443441.1:n.-15A>C
ENST00000540368.5:n.586A>C
ENST00000613625.4:c.376A>C	ENSP00000482236.1:p.Ile126Leu
NM_012463.3:c.376A>C	NP_036595.2:p.Ile126Leu
XM_005253563.1:c.376A>C	XP_005253620.1:p.Ile126Leu
XM_006719317.2:c.-49A>C	XP_006719380.1:n.-49A>C
XR_429088.1:n.539A>C
XM_024448910.1:c.376A>C	XP_024304678.1:p.Ile126Leu
XM_024448911.1:c.-49A>C	XP_024304679.1:n.-49A>C
NM_012463.4:c.376A>C MANE Select	NP_036595.2:p.Ile126Leu