Canonical Allele Identifier: CA437430973

Gene: ATP13A4

Linked Data

• gnomAD v4: 3-193467419-C-T
• COSMIC: COSM3915602 ; COSM3915603
• MyVariant Identifiers: chr3:g.193185208C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467419C>T , CM000665.2:g.193467419C>T	GRCh38
NC_000003.11:g.193185208C>T , CM000665.1:g.193185208C>T	GRCh37
NC_000003.10:g.194667902C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.1011G>A MANE Select	ENSP00000339182.4:p.Gln337=
ENST00000295548.3:c.1011G>A	ENSP00000295548.3:p.Gln337=
ENST00000342695.8:c.1011G>A	ENSP00000339182.4:p.Gln337=
ENST00000392443.7:c.1011G>A	ENSP00000376238.3:p.Gln337=
ENST00000450950.6:c.*454G>A	ENSP00000402023.2:n.*454G>A
ENST00000490925.5:n.1119G>A
NM_032279.3:c.1011G>A	NP_115655.2:p.Gln337=
XM_005247829.2:c.1011G>A	XP_005247886.1:p.Gln337=
XM_011513232.1:c.1011G>A	XP_011511534.1:p.Gln337=
XR_241512.2:n.1312G>A
XR_924191.1:n.1312G>A
XM_011513232.2:c.1011G>A	XP_011511534.1:p.Gln337=
XM_017007318.1:c.684G>A	XP_016862807.1:p.Gln228=
XM_017007319.1:c.1011G>A	XP_016862808.1:p.Gln337=
XR_001740324.2:n.1081G>A
XR_001740325.1:n.1081G>A
XR_002959602.1:n.1245G>A
XR_924191.3:n.1081G>A
NM_032279.4:c.1011G>A MANE Select	NP_115655.2:p.Gln337=