Canonical Allele Identifier: CA387150796

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123718622G>T , CM000674.2:g.123718622G>T	GRCh38
NC_000012.11:g.124203169G>T , CM000674.1:g.124203169G>T	GRCh37
NC_000012.10:g.122769122G>T	NCBI36
NG_012743.1:g.11305G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.118-1G>T MANE Select	NP_036595.2:n.118-1G>T
ENST00000330342.8:c.118-1G>T MANE Select	ENSP00000332247.2:n.118-1G>T
NM_012463.3:c.118-1G>T	NP_036595.2:n.118-1G>T
ENST00000330342.7:c.118-1G>T	ENSP00000332247.2:n.118-1G>T
ENST00000540368.5:n.328-1G>T
ENST00000540368.6:n.149-1G>T
ENST00000613625.4:c.118-1G>T	ENSP00000482236.1:n.118-1G>T
ENST00000613625.5:c.118-1G>T	ENSP00000482236.1:n.118-1G>T
ENST00000675344.1:c.118-1G>T	ENSP00000501953.1:n.118-1G>T
ENST00000676034.1:n.101-1G>T
XM_005253563.1:c.118-1G>T	XP_005253620.1:n.118-1G>T
XM_024448910.1:c.118-1G>T	XP_024304678.1:n.118-1G>T
XR_429088.1:n.281-1G>T
XR_945477.1:n.1100-3059C>A
XR_945477.3:n.492-3059C>A
XR_945478.1:n.1100-3059C>A
XR_945478.3:n.492-3059C>A
XR_945479.1:n.1100-3059C>A