Canonical Allele Identifier: CA338239661

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16989743-G-T
• MyVariant Identifiers: chr1:g.17316238G>T (hg19) ; chr1:g.16989743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989743G>T , CM000663.2:g.16989743G>T	GRCh38
NC_000001.10:g.17316238G>T , CM000663.1:g.17316238G>T	GRCh37
NC_000001.9:g.17188825G>T	NCBI36
NG_009054.1:g.27186C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2557C>A MANE Select	ENSP00000327214.8:p.Arg853Ser
ENST00000326735.12:c.2557C>A	ENSP00000327214.8:p.Arg853Ser
ENST00000341676.9:c.2425C>A	ENSP00000341115.5:p.Arg809Ser
ENST00000452699.5:c.2542C>A	ENSP00000413307.1:p.Arg848Ser
ENST00000466561.1:n.431C>A
ENST00000502418.1:c.145C>A	ENSP00000423065.1:p.Arg49Ser
NM_001141973.2:c.2542C>A	NP_001135445.1:p.Arg848Ser
NM_001141974.2:c.2425C>A	NP_001135446.1:p.Arg809Ser
NM_022089.3:c.2557C>A	NP_071372.1:p.Arg853Ser
XM_005245809.1:c.2557C>A	XP_005245866.1:p.Arg853Ser
XM_005245810.1:c.2554C>A	XP_005245867.1:p.Arg852Ser
XM_005245811.1:c.2542C>A	XP_005245868.1:p.Arg848Ser
XM_005245812.1:c.2530C>A	XP_005245869.1:p.Arg844Ser
XM_005245813.1:c.2497C>A	XP_005245870.1:p.Arg833Ser
XM_005245815.1:c.2440C>A	XP_005245872.1:p.Arg814Ser
XM_006710512.1:c.2539C>A	XP_006710575.1:p.Arg847Ser
XM_006710513.1:c.2515C>A	XP_006710576.1:p.Arg839Ser
XM_011541128.1:c.2542C>A	XP_011539430.1:p.Arg848Ser
XM_011541129.1:c.2350C>A	XP_011539431.1:p.Arg784Ser
XM_017000844.1:c.2542C>A	XP_016856333.1:p.Arg848Ser
XM_017000845.1:c.2539C>A	XP_016856334.1:p.Arg847Ser
XM_017000846.1:c.2515C>A	XP_016856335.1:p.Arg839Ser
XM_017000847.1:c.2512C>A	XP_016856336.1:p.Arg838Ser
XM_017000848.1:c.2440C>A	XP_016856337.1:p.Arg814Ser
XM_017000849.1:c.2425C>A	XP_016856338.1:p.Arg809Ser
XM_017000850.1:c.2350C>A	XP_016856339.1:p.Arg784Ser
NM_022089.4:c.2557C>A MANE Select	NP_071372.1:p.Arg853Ser
NM_001141973.3:c.2542C>A	NP_001135445.1:p.Arg848Ser
NM_001141974.3:c.2425C>A	NP_001135446.1:p.Arg809Ser