Canonical Allele Identifier: CA369374000

Gene: ATP6V0A4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706703T>C , CM000669.2:g.138706703T>C	GRCh38
NC_000007.13:g.138391448T>C , CM000669.1:g.138391448T>C	GRCh37
NC_000007.12:g.138041988T>C	NCBI36
NG_008145.1:g.96494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.2444A>G MANE Select	ENSP00000308122.2:p.Asn815Ser
ENST00000478480.2:c.*9A>G	ENSP00000495261.1:n.*9A>G
ENST00000644341.1:c.1670A>G	ENSP00000495642.1:p.Asn557Ser
ENST00000645515.1:c.2444A>G	ENSP00000496421.1:p.Asn815Ser
ENST00000647427.1:c.1219A>G	ENSP00000496259.1:n.1219A>G
ENST00000310018.6:c.2444A>G	ENSP00000308122.2:p.Asn815Ser
ENST00000353492.4:c.2444A>G	ENSP00000253856.6:p.Asn815Ser
ENST00000393054.5:c.2444A>G	ENSP00000376774.1:p.Asn815Ser
NM_020632.2:c.2444A>G	NP_065683.2:p.Asn815Ser
NM_130840.2:c.2444A>G	NP_570855.2:p.Asn815Ser
NM_130841.2:c.2444A>G	NP_570856.2:p.Asn815Ser
XM_005250393.1:c.2444A>G	XP_005250450.1:p.Asn815Ser
XM_005250394.2:c.2444A>G	XP_005250451.1:p.Asn815Ser
XM_005250394.3:c.2444A>G	XP_005250451.1:p.Asn815Ser
NM_020632.3:c.2444A>G MANE Select	NP_065683.2:p.Asn815Ser
NM_130840.3:c.2444A>G	NP_570855.2:p.Asn815Ser
NM_130841.3:c.2444A>G	NP_570856.2:p.Asn815Ser