Canonical Allele Identifier: CA369373985

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 1344704
• ClinVar RCV Id: RCV001849705
• dbSNP Id: rs2117166533
• MyVariant Identifiers: chr7:g.138391446T>C (hg19) ; chr7:g.138706701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706701T>C , CM000669.2:g.138706701T>C	GRCh38
NC_000007.13:g.138391446T>C , CM000669.1:g.138391446T>C	GRCh37
NC_000007.12:g.138041986T>C	NCBI36
NG_008145.1:g.96496A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.2446A>G MANE Select	ENSP00000308122.2:p.Lys816Glu
ENST00000478480.2:c.*11A>G	ENSP00000495261.1:n.*11A>G
ENST00000644341.1:c.1672A>G	ENSP00000495642.1:p.Lys558Glu
ENST00000645515.1:c.2446A>G	ENSP00000496421.1:p.Lys816Glu
ENST00000647427.1:c.1221A>G	ENSP00000496259.1:n.1221A>G
ENST00000310018.6:c.2446A>G	ENSP00000308122.2:p.Lys816Glu
ENST00000353492.4:c.2446A>G	ENSP00000253856.6:p.Lys816Glu
ENST00000393054.5:c.2446A>G	ENSP00000376774.1:p.Lys816Glu
NM_020632.2:c.2446A>G	NP_065683.2:p.Lys816Glu
NM_130840.2:c.2446A>G	NP_570855.2:p.Lys816Glu
NM_130841.2:c.2446A>G	NP_570856.2:p.Lys816Glu
XM_005250393.1:c.2446A>G	XP_005250450.1:p.Lys816Glu
XM_005250394.2:c.2446A>G	XP_005250451.1:p.Lys816Glu
XM_005250394.3:c.2446A>G	XP_005250451.1:p.Lys816Glu
NM_020632.3:c.2446A>G MANE Select	NP_065683.2:p.Lys816Glu
NM_130840.3:c.2446A>G	NP_570855.2:p.Lys816Glu
NM_130841.3:c.2446A>G	NP_570856.2:p.Lys816Glu