Canonical Allele Identifier: CA345998

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 161122
• ClinVar RCV Id: RCV000148303 ; RCV000414799 ; RCV001234241 ; RCV001551275
• dbSNP Id: rs542652468
• MyVariant Identifiers: chr19:g.42490329G>A (hg19) ; chr19:g.41986177G>A (hg38)
• PubMed: PMID:20301294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41986177G>A , CM000681.2:g.41986177G>A	GRCh38
NC_000019.9:g.42490329G>A , CM000681.1:g.42490329G>A	GRCh37
NC_000019.8:g.47182169G>A	NCBI36
NG_008015.1:g.13054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.449C>T	ENSP00000444688.1:p.Ser150Phe
ENST00000644613.1:c.410C>T	ENSP00000494711.1:p.Ser137Phe
ENST00000645448.1:n.525C>T
ENST00000648268.1:c.410C>T MANE Select	ENSP00000498113.1:p.Ser137Phe
ENST00000302102.9:c.410C>T	ENSP00000302397.5:p.Ser137Phe
ENST00000441343.5:c.410C>T	ENSP00000411503.1:p.Ser137Phe
ENST00000473086.3:c.320C>T	ENSP00000469129.2:p.Ser107Phe
ENST00000543770.5:c.443C>T	ENSP00000437577.1:p.Ser148Phe
ENST00000545399.5:c.449C>T	ENSP00000444688.1:p.Ser150Phe
ENST00000602133.5:c.320C>T	ENSP00000471581.1:p.Ser107Phe
NM_001256213.1:c.443C>T	NP_001243142.1:p.Ser148Phe
NM_001256214.1:c.449C>T	NP_001243143.1:p.Ser150Phe
NM_152296.4:c.410C>T	NP_689509.1:p.Ser137Phe
XM_011526991.1:c.320C>T	XP_011525293.1:p.Ser107Phe
NM_152296.5:c.410C>T MANE Select	NP_689509.1:p.Ser137Phe
NM_001256214.2:c.449C>T	NP_001243143.1:p.Ser150Phe
NM_001256213.2:c.443C>T	NP_001243142.1:p.Ser148Phe