Canonical Allele Identifier: CA4504641

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs748638764
• ExAC: 7:138417690 T / G
• gnomAD v2: 7-138417690-T-G
• gnomAD v4: 7-138732945-T-G
• MyVariant Identifiers: chr7:g.138417690T>G (hg19) ; chr7:g.138732945T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732945T>G , CM000669.2:g.138732945T>G	GRCh38
NC_000007.13:g.138417690T>G , CM000669.1:g.138417690T>G	GRCh37
NC_000007.12:g.138068230T>G	NCBI36
NG_008145.1:g.70252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1840A>C MANE Select	ENSP00000308122.2:p.Ile614Leu
ENST00000478480.2:c.1066A>C	ENSP00000495261.1:p.Ile356Leu
ENST00000644341.1:c.1066A>C	ENSP00000495642.1:p.Ile356Leu
ENST00000645515.1:c.1840A>C	ENSP00000496421.1:p.Ile614Leu
ENST00000647427.1:c.733A>C	ENSP00000496259.1:p.Ile245Leu
ENST00000310018.6:c.1840A>C	ENSP00000308122.2:p.Ile614Leu
ENST00000353492.4:c.1840A>C	ENSP00000253856.6:p.Ile614Leu
ENST00000393054.5:c.1840A>C	ENSP00000376774.1:p.Ile614Leu
NM_020632.2:c.1840A>C	NP_065683.2:p.Ile614Leu
NM_130840.2:c.1840A>C	NP_570855.2:p.Ile614Leu
NM_130841.2:c.1840A>C	NP_570856.2:p.Ile614Leu
XM_005250393.1:c.1840A>C	XP_005250450.1:p.Ile614Leu
XM_005250394.2:c.1840A>C	XP_005250451.1:p.Ile614Leu
XM_005250394.3:c.1840A>C	XP_005250451.1:p.Ile614Leu
NM_020632.3:c.1840A>C MANE Select	NP_065683.2:p.Ile614Leu
NM_130840.3:c.1840A>C	NP_570855.2:p.Ile614Leu
NM_130841.3:c.1840A>C	NP_570856.2:p.Ile614Leu