Canonical Allele Identifier: CA369377507

Gene: ATP6V0A4

Linked Data

• gnomAD v4: 7-138762999-C-G
• MyVariant Identifiers: chr7:g.138447744C>G (hg19) ; chr7:g.138762999C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762999C>G , CM000669.2:g.138762999C>G	GRCh38
NC_000007.13:g.138447744C>G , CM000669.1:g.138447744C>G	GRCh37
NC_000007.12:g.138098284C>G	NCBI36
NG_008145.1:g.40198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.318G>C MANE Select	ENSP00000308122.2:p.Glu106Asp
ENST00000645515.1:c.318G>C	ENSP00000496421.1:p.Glu106Asp
ENST00000310018.6:c.318G>C	ENSP00000308122.2:p.Glu106Asp
ENST00000353492.4:c.318G>C	ENSP00000253856.6:p.Glu106Asp
ENST00000393054.5:c.318G>C	ENSP00000376774.1:p.Glu106Asp
ENST00000483139.1:n.567G>C
NM_020632.2:c.318G>C	NP_065683.2:p.Glu106Asp
NM_130840.2:c.318G>C	NP_570855.2:p.Glu106Asp
NM_130841.2:c.318G>C	NP_570856.2:p.Glu106Asp
XM_005250393.1:c.318G>C	XP_005250450.1:p.Glu106Asp
XM_005250394.2:c.318G>C	XP_005250451.1:p.Glu106Asp
XM_005250394.3:c.318G>C	XP_005250451.1:p.Glu106Asp
NM_020632.3:c.318G>C MANE Select	NP_065683.2:p.Glu106Asp
NM_130840.3:c.318G>C	NP_570855.2:p.Glu106Asp
NM_130841.3:c.318G>C	NP_570856.2:p.Glu106Asp