Canonical Allele Identifier: CA369377566

Gene: ATP6V0A4

Linked Data

• gnomAD v4: 7-138763009-A-C
• MyVariant Identifiers: chr7:g.138447754A>C (hg19) ; chr7:g.138763009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138763009A>C , CM000669.2:g.138763009A>C	GRCh38
NC_000007.13:g.138447754A>C , CM000669.1:g.138447754A>C	GRCh37
NC_000007.12:g.138098294A>C	NCBI36
NG_008145.1:g.40188T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.308T>G MANE Select	ENSP00000308122.2:p.Leu103Arg
ENST00000645515.1:c.308T>G	ENSP00000496421.1:p.Leu103Arg
ENST00000310018.6:c.308T>G	ENSP00000308122.2:p.Leu103Arg
ENST00000353492.4:c.308T>G	ENSP00000253856.6:p.Leu103Arg
ENST00000393054.5:c.308T>G	ENSP00000376774.1:p.Leu103Arg
ENST00000483139.1:n.557T>G
NM_020632.2:c.308T>G	NP_065683.2:p.Leu103Arg
NM_130840.2:c.308T>G	NP_570855.2:p.Leu103Arg
NM_130841.2:c.308T>G	NP_570856.2:p.Leu103Arg
XM_005250393.1:c.308T>G	XP_005250450.1:p.Leu103Arg
XM_005250394.2:c.308T>G	XP_005250451.1:p.Leu103Arg
XM_005250394.3:c.308T>G	XP_005250451.1:p.Leu103Arg
NM_020632.3:c.308T>G MANE Select	NP_065683.2:p.Leu103Arg
NM_130840.3:c.308T>G	NP_570855.2:p.Leu103Arg
NM_130841.3:c.308T>G	NP_570856.2:p.Leu103Arg