Canonical Allele Identifier: CA342904

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 37109
• ClinVar RCV Id: RCV000030751 ; RCV000541711
• dbSNP Id: rs387907282
• MyVariant Identifiers: chr19:g.42474448A>G (hg19) ; chr19:g.41970296A>G (hg38)
• PubMed: PMID:20301294 ; PMID:22842232

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970296A>G , CM000681.2:g.41970296A>G	GRCh38
NC_000019.9:g.42474448A>G , CM000681.1:g.42474448A>G	GRCh37
NC_000019.8:g.47166288A>G	NCBI36
NG_008015.1:g.28935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2470T>C	ENSP00000444688.1:p.Ser824Pro
ENST00000644613.1:c.2431T>C	ENSP00000494711.1:p.Ser811Pro
ENST00000648268.1:c.2431T>C MANE Select	ENSP00000498113.1:p.Ser811Pro
ENST00000302102.9:c.2431T>C	ENSP00000302397.5:p.Ser811Pro
ENST00000441343.5:c.2431T>C	ENSP00000411503.1:p.Ser811Pro
ENST00000543770.5:c.2464T>C	ENSP00000437577.1:p.Ser822Pro
ENST00000545399.5:c.2470T>C	ENSP00000444688.1:p.Ser824Pro
ENST00000602133.5:c.2341T>C	ENSP00000471581.1:p.Ser781Pro
NM_001256213.1:c.2464T>C	NP_001243142.1:p.Ser822Pro
NM_001256214.1:c.2470T>C	NP_001243143.1:p.Ser824Pro
NM_152296.4:c.2431T>C	NP_689509.1:p.Ser811Pro
XM_011526991.1:c.2341T>C	XP_011525293.1:p.Ser781Pro
NM_152296.5:c.2431T>C MANE Select	NP_689509.1:p.Ser811Pro
NM_001256214.2:c.2470T>C	NP_001243143.1:p.Ser824Pro
NM_001256213.2:c.2464T>C	NP_001243142.1:p.Ser822Pro