Canonical Allele Identifier: CA9467946

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 329432
• ClinVar RCV Id: RCV000260622 ; RCV000316480 ; RCV001288804 ; RCV001706534 ; RCV002259892 ; RCV002259893
• dbSNP Id: rs376960579
• ExAC: 19:42492476 A / G
• gnomAD v2: 19-42492476-A-G
• gnomAD v3: 19-41988324-A-G
• gnomAD v4: 19-41988324-A-G
• MyVariant Identifiers: chr19:g.42492476A>G (hg19) ; chr19:g.41988324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41988324A>G , CM000681.2:g.41988324A>G	GRCh38
NC_000019.9:g.42492476A>G , CM000681.1:g.42492476A>G	GRCh37
NC_000019.8:g.47184316A>G	NCBI36
NG_008015.1:g.10907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.186T>C	ENSP00000444688.1:p.Cys62=
ENST00000644613.1:c.147T>C	ENSP00000494711.1:p.Cys49=
ENST00000648268.1:c.147T>C MANE Select	ENSP00000498113.1:p.Cys49=
ENST00000302102.9:c.147T>C	ENSP00000302397.5:p.Cys49=
ENST00000441343.5:c.147T>C	ENSP00000411503.1:p.Cys49=
ENST00000465007.1:n.136T>C
ENST00000468774.3:n.456T>C
ENST00000473086.3:c.57T>C	ENSP00000469129.2:p.Cys19=
ENST00000543770.5:c.180T>C	ENSP00000437577.1:p.Cys60=
ENST00000545399.5:c.186T>C	ENSP00000444688.1:p.Cys62=
ENST00000602133.5:c.57T>C	ENSP00000471581.1:p.Cys19=
NM_001256213.1:c.180T>C	NP_001243142.1:p.Cys60=
NM_001256214.1:c.186T>C	NP_001243143.1:p.Cys62=
NM_152296.4:c.147T>C	NP_689509.1:p.Cys49=
XM_011526991.1:c.57T>C	XP_011525293.1:p.Cys19=
NM_152296.5:c.147T>C MANE Select	NP_689509.1:p.Cys49=
NM_001256214.2:c.186T>C	NP_001243143.1:p.Cys62=
NM_001256213.2:c.180T>C	NP_001243142.1:p.Cys60=