Canonical Allele Identifier: CA387152248

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124210833G>T (hg19) ; chr12:g.123726286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123726286G>T , CM000674.2:g.123726286G>T	GRCh38
NC_000012.11:g.124210833G>T , CM000674.1:g.124210833G>T	GRCh37
NC_000012.10:g.122776786G>T	NCBI36
NG_012743.1:g.18969G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.521+1G>T MANE Select	ENSP00000332247.2:n.521+1G>T
ENST00000540368.6:n.552+1G>T
ENST00000613625.5:c.521+1G>T	ENSP00000482236.1:n.521+1G>T
ENST00000675344.1:c.521+1G>T	ENSP00000501953.1:n.521+1G>T
ENST00000330342.7:c.521+1G>T	ENSP00000332247.2:n.521+1G>T
ENST00000504192.2:c.131+1G>T	ENSP00000443441.1:n.131+1G>T
ENST00000540368.5:n.731+1G>T
ENST00000613625.4:c.521+1G>T	ENSP00000482236.1:n.521+1G>T
NM_012463.3:c.521+1G>T	NP_036595.2:n.521+1G>T
XM_005253563.1:c.521+1G>T	XP_005253620.1:n.521+1G>T
XM_006719317.2:c.8+1495G>T	XP_006719380.1:n.8+1495G>T
XR_429088.1:n.684+1G>T
XM_024448910.1:c.521+1G>T	XP_024304678.1:n.521+1G>T
XM_024448911.1:c.8+1495G>T	XP_024304679.1:n.8+1495G>T
NM_012463.4:c.521+1G>T MANE Select	NP_036595.2:n.521+1G>T