Canonical Allele Identifier: CA457942192

Gene: ATP6V0A4

Linked Data

• MyVariant Identifiers: chr7:g.138447750T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138763005T>C , CM000669.2:g.138763005T>C	GRCh38
NC_000007.13:g.138447750T>C , CM000669.1:g.138447750T>C	GRCh37
NC_000007.12:g.138098290T>C	NCBI36
NG_008145.1:g.40192A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.312A>G MANE Select	ENSP00000308122.2:p.Glu104=
ENST00000645515.1:c.312A>G	ENSP00000496421.1:p.Glu104=
ENST00000310018.6:c.312A>G	ENSP00000308122.2:p.Glu104=
ENST00000353492.4:c.312A>G	ENSP00000253856.6:p.Glu104=
ENST00000393054.5:c.312A>G	ENSP00000376774.1:p.Glu104=
ENST00000483139.1:n.561A>G
NM_020632.2:c.312A>G	NP_065683.2:p.Glu104=
NM_130840.2:c.312A>G	NP_570855.2:p.Glu104=
NM_130841.2:c.312A>G	NP_570856.2:p.Glu104=
XM_005250393.1:c.312A>G	XP_005250450.1:p.Glu104=
XM_005250394.2:c.312A>G	XP_005250451.1:p.Glu104=
XM_005250394.3:c.312A>G	XP_005250451.1:p.Glu104=
NM_020632.3:c.312A>G MANE Select	NP_065683.2:p.Glu104=
NM_130840.3:c.312A>G	NP_570855.2:p.Glu104=
NM_130841.3:c.312A>G	NP_570856.2:p.Glu104=