Canonical Allele Identifier: CA341236

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 12912
• ClinVar RCV Id: RCV000013775 ; RCV001781260
• dbSNP Id: rs80356535
• MyVariant Identifiers: chr19:g.42474685A>C (hg19) ; chr19:g.41970533A>C (hg38)
• PubMed: PMID:8255463 ; PMID:15260953 ; PMID:17282997 ; PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970533A>C , CM000681.2:g.41970533A>C	GRCh38
NC_000019.9:g.42474685A>C , CM000681.1:g.42474685A>C	GRCh37
NC_000019.8:g.47166525A>C	NCBI36
NG_008015.1:g.28698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2312T>G	ENSP00000444688.1:p.Ile771Ser
ENST00000644613.1:c.2273T>G	ENSP00000494711.1:p.Ile758Ser
ENST00000648268.1:c.2273T>G MANE Select	ENSP00000498113.1:p.Ile758Ser
ENST00000302102.9:c.2273T>G	ENSP00000302397.5:p.Ile758Ser
ENST00000441343.5:c.2273T>G	ENSP00000411503.1:p.Ile758Ser
ENST00000543770.5:c.2306T>G	ENSP00000437577.1:p.Ile769Ser
ENST00000545399.5:c.2312T>G	ENSP00000444688.1:p.Ile771Ser
ENST00000602133.5:c.2183T>G	ENSP00000471581.1:p.Ile728Ser
NM_001256213.1:c.2306T>G	NP_001243142.1:p.Ile769Ser
NM_001256214.1:c.2312T>G	NP_001243143.1:p.Ile771Ser
NM_152296.4:c.2273T>G	NP_689509.1:p.Ile758Ser
XM_011526991.1:c.2183T>G	XP_011525293.1:p.Ile728Ser
NM_152296.5:c.2273T>G MANE Select	NP_689509.1:p.Ile758Ser
NM_001256214.2:c.2312T>G	NP_001243143.1:p.Ile771Ser
NM_001256213.2:c.2306T>G	NP_001243142.1:p.Ile769Ser