Canonical Allele Identifier: CA167113213

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1007355074
• gnomAD v4: 7-138706490-T-C
• MyVariant Identifiers: chr7:g.138391235T>C (hg19) ; chr7:g.138706490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706490T>C , CM000669.2:g.138706490T>C	GRCh38
NC_000007.13:g.138391235T>C , CM000669.1:g.138391235T>C	GRCh37
NC_000007.12:g.138041775T>C	NCBI36
NG_008145.1:g.96707A>G
NG_051552.1:g.58A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*134A>G MANE Select	ENSP00000308122.2:n.*134A>G
ENST00000478480.2:c.*222A>G	ENSP00000495261.1:n.*222A>G
ENST00000644341.1:c.*134A>G	ENSP00000495642.1:n.*134A>G
ENST00000645515.1:c.*134A>G	ENSP00000496421.1:n.*134A>G
ENST00000647427.1:c.1432A>G	ENSP00000496259.1:n.1432A>G
ENST00000310018.6:c.*134A>G	ENSP00000308122.2:n.*134A>G
ENST00000393054.5:c.*134A>G	ENSP00000376774.1:n.*134A>G
NM_020632.2:c.*134A>G	NP_065683.2:n.*134A>G
NM_130840.2:c.*134A>G	NP_570855.2:n.*134A>G
NM_130841.2:c.*134A>G	NP_570856.2:n.*134A>G
XM_005250393.1:c.*134A>G	XP_005250450.1:n.*134A>G
XM_005250394.2:c.*134A>G	XP_005250451.1:n.*134A>G
XM_005250394.3:c.*134A>G	XP_005250451.1:n.*134A>G
NM_020632.3:c.*134A>G MANE Select	NP_065683.2:n.*134A>G
NM_130840.3:c.*134A>G	NP_570855.2:n.*134A>G
NM_130841.3:c.*134A>G	NP_570856.2:n.*134A>G