Canonical Allele Identifier: CA167113239

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1003748725
• gnomAD v3: 7-138706570-G-A
• gnomAD v4: 7-138706570-G-A
• MyVariant Identifiers: chr7:g.138391315G>A (hg19) ; chr7:g.138706570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706570G>A , CM000669.2:g.138706570G>A	GRCh38
NC_000007.13:g.138391315G>A , CM000669.1:g.138391315G>A	GRCh37
NC_000007.12:g.138041855G>A	NCBI36
NG_008145.1:g.96627C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*54C>T MANE Select	ENSP00000308122.2:n.*54C>T
ENST00000478480.2:c.*142C>T	ENSP00000495261.1:n.*142C>T
ENST00000644341.1:c.*54C>T	ENSP00000495642.1:n.*54C>T
ENST00000645515.1:c.*54C>T	ENSP00000496421.1:n.*54C>T
ENST00000647427.1:c.1352C>T	ENSP00000496259.1:n.1352C>T
ENST00000310018.6:c.*54C>T	ENSP00000308122.2:n.*54C>T
ENST00000353492.4:c.*54C>T	ENSP00000253856.6:n.*54C>T
ENST00000393054.5:c.*54C>T	ENSP00000376774.1:n.*54C>T
NM_020632.2:c.*54C>T	NP_065683.2:n.*54C>T
NM_130840.2:c.*54C>T	NP_570855.2:n.*54C>T
NM_130841.2:c.*54C>T	NP_570856.2:n.*54C>T
XM_005250393.1:c.*54C>T	XP_005250450.1:n.*54C>T
XM_005250394.2:c.*54C>T	XP_005250451.1:n.*54C>T
XM_005250394.3:c.*54C>T	XP_005250451.1:n.*54C>T
NM_020632.3:c.*54C>T MANE Select	NP_065683.2:n.*54C>T
NM_130840.3:c.*54C>T	NP_570855.2:n.*54C>T
NM_130841.3:c.*54C>T	NP_570856.2:n.*54C>T