Canonical Allele Identifier: CA369378707

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs780506721
• gnomAD v2: 7-138417650-G-C
• gnomAD v4: 7-138732905-G-C
• MyVariant Identifiers: chr7:g.138417650G>C (hg19) ; chr7:g.138732905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732905G>C , CM000669.2:g.138732905G>C	GRCh38
NC_000007.13:g.138417650G>C , CM000669.1:g.138417650G>C	GRCh37
NC_000007.12:g.138068190G>C	NCBI36
NG_008145.1:g.70292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1880C>G MANE Select	ENSP00000308122.2:p.Ser627Cys
ENST00000478480.2:c.1106C>G	ENSP00000495261.1:p.Ser369Cys
ENST00000644341.1:c.1106C>G	ENSP00000495642.1:p.Ser369Cys
ENST00000645515.1:c.1880C>G	ENSP00000496421.1:p.Ser627Cys
ENST00000647427.1:c.773C>G	ENSP00000496259.1:p.Ser258Cys
ENST00000310018.6:c.1880C>G	ENSP00000308122.2:p.Ser627Cys
ENST00000353492.4:c.1880C>G	ENSP00000253856.6:p.Ser627Cys
ENST00000393054.5:c.1880C>G	ENSP00000376774.1:p.Ser627Cys
NM_020632.2:c.1880C>G	NP_065683.2:p.Ser627Cys
NM_130840.2:c.1880C>G	NP_570855.2:p.Ser627Cys
NM_130841.2:c.1880C>G	NP_570856.2:p.Ser627Cys
XM_005250393.1:c.1880C>G	XP_005250450.1:p.Ser627Cys
XM_005250394.2:c.1880C>G	XP_005250451.1:p.Ser627Cys
XM_005250394.3:c.1880C>G	XP_005250451.1:p.Ser627Cys
NM_020632.3:c.1880C>G MANE Select	NP_065683.2:p.Ser627Cys
NM_130840.3:c.1880C>G	NP_570855.2:p.Ser627Cys
NM_130841.3:c.1880C>G	NP_570856.2:p.Ser627Cys