Canonical Allele Identifier: CA2758543

Gene: ATP13A4

Linked Data

• dbSNP Id: rs750984476
• ExAC: 3:193185225 C / G
• gnomAD v2: 3-193185225-C-G
• gnomAD v4: 3-193467436-C-G
• MyVariant Identifiers: chr3:g.193185225C>G (hg19) ; chr3:g.193467436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467436C>G , CM000665.2:g.193467436C>G	GRCh38
NC_000003.11:g.193185225C>G , CM000665.1:g.193185225C>G	GRCh37
NC_000003.10:g.194667919C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.994G>C MANE Select	ENSP00000339182.4:p.Val332Leu
ENST00000295548.3:c.994G>C	ENSP00000295548.3:p.Val332Leu
ENST00000342695.8:c.994G>C	ENSP00000339182.4:p.Val332Leu
ENST00000392443.7:c.994G>C	ENSP00000376238.3:p.Val332Leu
ENST00000450950.6:c.*437G>C	ENSP00000402023.2:n.*437G>C
ENST00000490925.5:n.1102G>C
NM_032279.3:c.994G>C	NP_115655.2:p.Val332Leu
XM_005247829.2:c.994G>C	XP_005247886.1:p.Val332Leu
XM_011513232.1:c.994G>C	XP_011511534.1:p.Val332Leu
XR_241512.2:n.1295G>C
XR_924191.1:n.1295G>C
XM_011513232.2:c.994G>C	XP_011511534.1:p.Val332Leu
XM_017007318.1:c.667G>C	XP_016862807.1:p.Val223Leu
XM_017007319.1:c.994G>C	XP_016862808.1:p.Val332Leu
XR_001740324.2:n.1064G>C
XR_001740325.1:n.1064G>C
XR_002959602.1:n.1228G>C
XR_924191.3:n.1064G>C
NM_032279.4:c.994G>C MANE Select	NP_115655.2:p.Val332Leu