Canonical Allele Identifier: CA341234

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 12910
• ClinVar RCV Id: RCV000013773
• dbSNP Id: rs80356532
• MyVariant Identifiers: chr19:g.42489242A>G (hg19) ; chr19:g.41985090A>G (hg38)
• PubMed: PMID:15260953 ; PMID:17282997 ; PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985090A>G , CM000681.2:g.41985090A>G	GRCh38
NC_000019.9:g.42489242A>G , CM000681.1:g.42489242A>G	GRCh37
NC_000019.8:g.47181082A>G	NCBI36
NG_008015.1:g.14141T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.860T>C	ENSP00000444688.1:p.Ile287Thr
ENST00000644613.1:c.821T>C	ENSP00000494711.1:p.Ile274Thr
ENST00000648268.1:c.821T>C MANE Select	ENSP00000498113.1:p.Ile274Thr
ENST00000302102.9:c.821T>C	ENSP00000302397.5:p.Ile274Thr
ENST00000441343.5:c.821T>C	ENSP00000411503.1:p.Ile274Thr
ENST00000473086.3:c.731T>C	ENSP00000469129.2:p.Ile244Thr
ENST00000485672.2:n.134T>C
ENST00000543770.5:c.854T>C	ENSP00000437577.1:p.Ile285Thr
ENST00000545399.5:c.860T>C	ENSP00000444688.1:p.Ile287Thr
ENST00000602133.5:c.731T>C	ENSP00000471581.1:p.Ile244Thr
NM_001256213.1:c.854T>C	NP_001243142.1:p.Ile285Thr
NM_001256214.1:c.860T>C	NP_001243143.1:p.Ile287Thr
NM_152296.4:c.821T>C	NP_689509.1:p.Ile274Thr
XM_011526991.1:c.731T>C	XP_011525293.1:p.Ile244Thr
NM_152296.5:c.821T>C MANE Select	NP_689509.1:p.Ile274Thr
NM_001256214.2:c.860T>C	NP_001243143.1:p.Ile287Thr
NM_001256213.2:c.854T>C	NP_001243142.1:p.Ile285Thr