Canonical Allele Identifier: CA8296991

Gene: ATP2A3

Linked Data

• ClinVar Variation Id: 402401
• ClinVar RCV Id: RCV000455627 ; RCV003970252
• dbSNP Id: rs9895012
• ExAC: 17:3844345 G / A
• gnomAD v2: 17-3844345-G-A
• gnomAD v3: 17-3941051-G-A
• gnomAD v4: 17-3941051-G-A
• MyVariant Identifiers: chr17:g.3844345G>A (hg19) ; chr17:g.3941051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3941051G>A , CM000679.2:g.3941051G>A	GRCh38
NC_000017.10:g.3844345G>A , CM000679.1:g.3844345G>A	GRCh37
NC_000017.9:g.3791094G>A	NCBI36
NG_029041.1:g.28392C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397041.8:c.2020C>T MANE Select	ENSP00000380234.3:p.Arg674Cys
ENST00000309890.11:c.2020C>T	ENSP00000312577.7:p.Arg674Cys
ENST00000352011.7:c.2020C>T	ENSP00000301387.6:p.Arg674Cys
ENST00000359983.7:c.2020C>T	ENSP00000353072.3:p.Arg674Cys
ENST00000397035.7:c.2020C>T	ENSP00000380229.3:p.Arg674Cys
ENST00000397041.7:c.2020C>T	ENSP00000380234.3:p.Arg674Cys
ENST00000397043.7:c.2020C>T	ENSP00000380236.3:p.Arg674Cys
NM_005173.3:c.2020C>T	NP_005164.2:p.Arg674Cys
NM_174953.2:c.2020C>T	NP_777613.1:p.Arg674Cys
NM_174954.2:c.2020C>T	NP_777614.1:p.Arg674Cys
NM_174955.2:c.2020C>T	NP_777615.1:p.Arg674Cys
NM_174956.2:c.2020C>T	NP_777616.1:p.Arg674Cys
NM_174957.2:c.2020C>T	NP_777617.1:p.Arg674Cys
NM_174958.2:c.2020C>T	NP_777618.1:p.Arg674Cys
XM_005256656.3:c.2020C>T	XP_005256713.1:p.Arg674Cys
XM_011523881.1:c.2020C>T	XP_011522183.1:p.Arg674Cys
XM_011523882.1:c.2020C>T	XP_011522184.1:p.Arg674Cys
XM_011523883.1:c.2020C>T	XP_011522185.1:p.Arg674Cys
XM_011523884.1:c.2020C>T	XP_011522186.1:p.Arg674Cys
XM_011523885.1:c.2020C>T	XP_011522187.1:p.Arg674Cys
XM_011523886.1:c.2020C>T	XP_011522188.1:p.Arg674Cys
XM_011523887.1:c.2020C>T	XP_011522189.1:p.Arg674Cys
XM_011523888.1:c.2020C>T	XP_011522190.1:p.Arg674Cys
XM_011523889.1:c.2020C>T	XP_011522191.1:p.Arg674Cys
XM_011523890.1:c.2020C>T	XP_011522192.1:p.Arg674Cys
XM_011523891.1:c.2020C>T	XP_011522193.1:p.Arg674Cys
XM_011523881.2:c.2020C>T	XP_011522183.1:p.Arg674Cys
XM_011523882.2:c.2020C>T	XP_011522184.1:p.Arg674Cys
XM_011523884.3:c.2020C>T	XP_011522186.1:p.Arg674Cys
XM_011523888.2:c.2020C>T	XP_011522190.1:p.Arg674Cys
XM_017024692.1:c.2020C>T	XP_016880181.1:p.Arg674Cys
XM_017024693.2:c.1738C>T	XP_016880182.1:p.Arg580Cys
NM_005173.4:c.2020C>T MANE Select	NP_005164.2:p.Arg674Cys
NM_174953.3:c.2020C>T	NP_777613.1:p.Arg674Cys
NM_174954.3:c.2020C>T	NP_777614.1:p.Arg674Cys
NM_174955.3:c.2020C>T	NP_777615.1:p.Arg674Cys
NM_174957.3:c.2020C>T	NP_777617.1:p.Arg674Cys
NM_174958.3:c.2020C>T	NP_777618.1:p.Arg674Cys
NM_174956.3:c.2020C>T	NP_777616.1:p.Arg674Cys