Canonical Allele Identifier: CA4505130

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 359031
• ClinVar RCV Id: RCV002519500
• dbSNP Id: rs752531162
• ExAC: 7:138447192 G / C
• gnomAD v2: 7-138447192-G-C
• gnomAD v3: 7-138762447-G-C
• gnomAD v4: 7-138762447-G-C
• MyVariant Identifiers: chr7:g.138447192G>C (hg19) ; chr7:g.138762447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762447G>C , CM000669.2:g.138762447G>C	GRCh38
NC_000007.13:g.138447192G>C , CM000669.1:g.138447192G>C	GRCh37
NC_000007.12:g.138097732G>C	NCBI36
NG_008145.1:g.40750C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.418-13C>G MANE Select	ENSP00000308122.2:n.418-13C>G
ENST00000645515.1:c.418-13C>G	ENSP00000496421.1:n.418-13C>G
ENST00000310018.6:c.418-13C>G	ENSP00000308122.2:n.418-13C>G
ENST00000353492.4:c.418-13C>G	ENSP00000253856.6:n.418-13C>G
ENST00000393054.5:c.418-13C>G	ENSP00000376774.1:n.418-13C>G
ENST00000483139.1:n.667-13C>G
NM_020632.2:c.418-13C>G	NP_065683.2:n.418-13C>G
NM_130840.2:c.418-13C>G	NP_570855.2:n.418-13C>G
NM_130841.2:c.418-13C>G	NP_570856.2:n.418-13C>G
XM_005250393.1:c.418-13C>G	XP_005250450.1:n.418-13C>G
XM_005250394.2:c.418-13C>G	XP_005250451.1:n.418-13C>G
XM_005250394.3:c.418-13C>G	XP_005250451.1:n.418-13C>G
NM_020632.3:c.418-13C>G MANE Select	NP_065683.2:n.418-13C>G
NM_130840.3:c.418-13C>G	NP_570855.2:n.418-13C>G
NM_130841.3:c.418-13C>G	NP_570856.2:n.418-13C>G