Canonical Allele Identifier: CA387157217

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124229144A>T (hg19) ; chr12:g.123744597A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744597A>T , CM000674.2:g.123744597A>T	GRCh38
NC_000012.11:g.124229144A>T , CM000674.1:g.124229144A>T	GRCh37
NC_000012.10:g.122795097A>T	NCBI36
NG_012743.1:g.37280A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1327A>T MANE Select	ENSP00000332247.2:p.Ile443Phe
ENST00000540368.6:n.1358A>T
ENST00000674794.1:c.1415A>T
ENST00000675260.1:n.602A>T
ENST00000675344.1:c.*348A>T	ENSP00000501953.1:n.*348A>T
ENST00000330342.7:c.1327A>T	ENSP00000332247.2:p.Ile443Phe
ENST00000504192.2:c.937A>T	ENSP00000443441.1:p.Ile313Phe
ENST00000536426.1:n.344A>T
ENST00000545059.5:n.3963A>T
NM_012463.3:c.1327A>T	NP_036595.2:p.Ile443Phe
XM_005253563.1:c.1327A>T	XP_005253620.1:p.Ile443Phe
XM_006719317.2:c.814A>T	XP_006719380.1:p.Ile272Phe
XM_006719318.2:c.505A>T	XP_006719381.1:p.Ile169Phe
XR_429088.1:n.1490A>T
XM_024448910.1:c.1327A>T	XP_024304678.1:p.Ile443Phe
XM_024448911.1:c.814A>T	XP_024304679.1:p.Ile272Phe
XM_024448912.1:c.505A>T	XP_024304680.1:p.Ile169Phe
NM_012463.4:c.1327A>T MANE Select	NP_036595.2:p.Ile443Phe