Canonical Allele Identifier: CA2579036096

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138771075G>T , CM000669.2:g.138771075G>T	GRCh38
NC_000007.13:g.138455820G>T , CM000669.1:g.138455820G>T	GRCh37
NC_000007.12:g.138106360G>T	NCBI36
NG_008145.1:g.32122C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.117+56C>A MANE Select	ENSP00000308122.2:n.117+56C>A
ENST00000645515.1:c.117+56C>A	ENSP00000496421.1:n.117+56C>A
ENST00000310018.6:c.117+56C>A	ENSP00000308122.2:n.117+56C>A
ENST00000353492.4:c.117+56C>A	ENSP00000253856.6:n.117+56C>A
ENST00000393054.5:c.117+56C>A	ENSP00000376774.1:n.117+56C>A
ENST00000483139.1:n.366+56C>A
NM_020632.2:c.117+56C>A	NP_065683.2:n.117+56C>A
NM_130840.2:c.117+56C>A	NP_570855.2:n.117+56C>A
NM_130841.2:c.117+56C>A	NP_570856.2:n.117+56C>A
XM_005250393.1:c.117+56C>A	XP_005250450.1:n.117+56C>A
XM_005250394.2:c.117+56C>A	XP_005250451.1:n.117+56C>A
XM_005250394.3:c.117+56C>A	XP_005250451.1:n.117+56C>A
NM_020632.3:c.117+56C>A MANE Select	NP_065683.2:n.117+56C>A
NM_130840.3:c.117+56C>A	NP_570855.2:n.117+56C>A
NM_130841.3:c.117+56C>A	NP_570856.2:n.117+56C>A