Canonical Allele Identifier: CA4505147

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs754047220
• ExAC: 7:138447661 G / A
• gnomAD v2: 7-138447661-G-A
• MyVariant Identifiers: chr7:g.138447661G>A (hg19) ; chr7:g.138762916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762916G>A , CM000669.2:g.138762916G>A	GRCh38
NC_000007.13:g.138447661G>A , CM000669.1:g.138447661G>A	GRCh37
NC_000007.12:g.138098201G>A	NCBI36
NG_008145.1:g.40281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.401C>T MANE Select	ENSP00000308122.2:p.Thr134Ile
ENST00000645515.1:c.401C>T	ENSP00000496421.1:p.Thr134Ile
ENST00000310018.6:c.401C>T	ENSP00000308122.2:p.Thr134Ile
ENST00000353492.4:c.401C>T	ENSP00000253856.6:p.Thr134Ile
ENST00000393054.5:c.401C>T	ENSP00000376774.1:p.Thr134Ile
ENST00000483139.1:n.650C>T
NM_020632.2:c.401C>T	NP_065683.2:p.Thr134Ile
NM_130840.2:c.401C>T	NP_570855.2:p.Thr134Ile
NM_130841.2:c.401C>T	NP_570856.2:p.Thr134Ile
XM_005250393.1:c.401C>T	XP_005250450.1:p.Thr134Ile
XM_005250394.2:c.401C>T	XP_005250451.1:p.Thr134Ile
XM_005250394.3:c.401C>T	XP_005250451.1:p.Thr134Ile
NM_020632.3:c.401C>T MANE Select	NP_065683.2:p.Thr134Ile
NM_130840.3:c.401C>T	NP_570855.2:p.Thr134Ile
NM_130841.3:c.401C>T	NP_570856.2:p.Thr134Ile