Canonical Allele Identifier: CA890973389

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1166756528
• gnomAD v4: 1-17005363-C-A
• MyVariant Identifiers: chr1:g.17331858C>A (hg19) ; chr1:g.17005363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17005363C>A , CM000663.2:g.17005363C>A	GRCh38
NC_000001.10:g.17331858C>A , CM000663.1:g.17331858C>A	GRCh37
NC_000001.9:g.17204445C>A	NCBI36
NG_009054.1:g.11566G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.288+11G>T MANE Select	ENSP00000327214.8:n.288+11G>T
ENST00000617114.5:c.307+11G>T	ENSP00000478781.2:n.307+11G>T
ENST00000326735.12:c.288+11G>T	ENSP00000327214.8:n.288+11G>T
ENST00000341676.9:c.288+11G>T	ENSP00000341115.5:n.288+11G>T
ENST00000452699.5:c.288+11G>T	ENSP00000413307.1:n.288+11G>T
ENST00000508222.5:c.22+11G>T
ENST00000509619.1:c.265+11G>T
ENST00000510069.5:c.214+11G>T
ENST00000617114.4:c.-559+11G>T	ENSP00000478781.1:n.-559+11G>T
NM_001141973.2:c.288+11G>T	NP_001135445.1:n.288+11G>T
NM_001141974.2:c.288+11G>T	NP_001135446.1:n.288+11G>T
NM_022089.3:c.288+11G>T	NP_071372.1:n.288+11G>T
XM_005245809.1:c.288+11G>T	XP_005245866.1:n.288+11G>T
XM_005245810.1:c.288+11G>T	XP_005245867.1:n.288+11G>T
XM_005245811.1:c.288+11G>T	XP_005245868.1:n.288+11G>T
XM_005245812.1:c.288+11G>T	XP_005245869.1:n.288+11G>T
XM_005245813.1:c.288+11G>T	XP_005245870.1:n.288+11G>T
XM_005245815.1:c.288+11G>T	XP_005245872.1:n.288+11G>T
XM_006710512.1:c.288+11G>T	XP_006710575.1:n.288+11G>T
XM_006710513.1:c.288+11G>T	XP_006710576.1:n.288+11G>T
XM_011541128.1:c.288+11G>T	XP_011539430.1:n.288+11G>T
XM_011541129.1:c.288+11G>T	XP_011539431.1:n.288+11G>T
XM_017000844.1:c.288+11G>T	XP_016856333.1:n.288+11G>T
XM_017000845.1:c.288+11G>T	XP_016856334.1:n.288+11G>T
XM_017000846.1:c.288+11G>T	XP_016856335.1:n.288+11G>T
XM_017000847.1:c.288+11G>T	XP_016856336.1:n.288+11G>T
XM_017000848.1:c.288+11G>T	XP_016856337.1:n.288+11G>T
XM_017000849.1:c.288+11G>T	XP_016856338.1:n.288+11G>T
XM_017000850.1:c.288+11G>T	XP_016856339.1:n.288+11G>T
NM_022089.4:c.288+11G>T MANE Select	NP_071372.1:n.288+11G>T
NM_001141973.3:c.288+11G>T	NP_001135445.1:n.288+11G>T
NM_001141974.3:c.288+11G>T	NP_001135446.1:n.288+11G>T