Canonical Allele Identifier: CA346021

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 161138
• ClinVar RCV Id: RCV000148319 ; RCV002510791 ; RCV002514853
• dbSNP Id: rs606231437
• MyVariant Identifiers: chr19:g.42474640T>C (hg19) ; chr19:g.41970488T>C (hg38)
• PubMed: PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970488T>C , CM000681.2:g.41970488T>C	GRCh38
NC_000019.9:g.42474640T>C , CM000681.1:g.42474640T>C	GRCh37
NC_000019.8:g.47166480T>C	NCBI36
NG_008015.1:g.28743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2357A>G	ENSP00000444688.1:p.Asn786Ser
ENST00000644613.1:c.2318A>G	ENSP00000494711.1:p.Asn773Ser
ENST00000648268.1:c.2318A>G MANE Select	ENSP00000498113.1:p.Asn773Ser
ENST00000302102.9:c.2318A>G	ENSP00000302397.5:p.Asn773Ser
ENST00000441343.5:c.2318A>G	ENSP00000411503.1:p.Asn773Ser
ENST00000543770.5:c.2351A>G	ENSP00000437577.1:p.Asn784Ser
ENST00000545399.5:c.2357A>G	ENSP00000444688.1:p.Asn786Ser
ENST00000602133.5:c.2228A>G	ENSP00000471581.1:p.Asn743Ser
NM_001256213.1:c.2351A>G	NP_001243142.1:p.Asn784Ser
NM_001256214.1:c.2357A>G	NP_001243143.1:p.Asn786Ser
NM_152296.4:c.2318A>G	NP_689509.1:p.Asn773Ser
XM_011526991.1:c.2228A>G	XP_011525293.1:p.Asn743Ser
NM_152296.5:c.2318A>G MANE Select	NP_689509.1:p.Asn773Ser
NM_001256214.2:c.2357A>G	NP_001243143.1:p.Asn786Ser
NM_001256213.2:c.2351A>G	NP_001243142.1:p.Asn784Ser