Canonical Allele Identifier: CA355783999

Gene: ATP13A4

Linked Data

• gnomAD v4: 3-193467439-A-C
• MyVariant Identifiers: chr3:g.193185228A>C (hg19) ; chr3:g.193467439A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467439A>C , CM000665.2:g.193467439A>C	GRCh38
NC_000003.11:g.193185228A>C , CM000665.1:g.193185228A>C	GRCh37
NC_000003.10:g.194667922A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.991T>G MANE Select	ENSP00000339182.4:p.Ser331Ala
ENST00000295548.3:c.991T>G	ENSP00000295548.3:p.Ser331Ala
ENST00000342695.8:c.991T>G	ENSP00000339182.4:p.Ser331Ala
ENST00000392443.7:c.991T>G	ENSP00000376238.3:p.Ser331Ala
ENST00000450950.6:c.*434T>G	ENSP00000402023.2:n.*434T>G
ENST00000490925.5:n.1099T>G
NM_032279.3:c.991T>G	NP_115655.2:p.Ser331Ala
XM_005247829.2:c.991T>G	XP_005247886.1:p.Ser331Ala
XM_011513232.1:c.991T>G	XP_011511534.1:p.Ser331Ala
XR_241512.2:n.1292T>G
XR_924191.1:n.1292T>G
XM_011513232.2:c.991T>G	XP_011511534.1:p.Ser331Ala
XM_017007318.1:c.664T>G	XP_016862807.1:p.Ser222Ala
XM_017007319.1:c.991T>G	XP_016862808.1:p.Ser331Ala
XR_001740324.2:n.1061T>G
XR_001740325.1:n.1061T>G
XR_002959602.1:n.1225T>G
XR_924191.3:n.1061T>G
NM_032279.4:c.991T>G MANE Select	NP_115655.2:p.Ser331Ala