Canonical Allele Identifier: CA9467555

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 1615585
• ClinVar RCV Id: RCV002081572
• dbSNP Id: rs782302598
• ExAC: 19:42482243 A / G
• gnomAD v2: 19-42482243-A-G
• gnomAD v3: 19-41978091-A-G
• gnomAD v4: 19-41978091-A-G
• MyVariant Identifiers: chr19:g.42482243A>G (hg19) ; chr19:g.41978091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978091A>G , CM000681.2:g.41978091A>G	GRCh38
NC_000019.9:g.42482243A>G , CM000681.1:g.42482243A>G	GRCh37
NC_000019.8:g.47174083A>G	NCBI36
NG_008015.1:g.21140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1846-19T>C	ENSP00000444688.1:n.1846-19T>C
ENST00000644613.1:c.1807-19T>C	ENSP00000494711.1:n.1807-19T>C
ENST00000648268.1:c.1807-19T>C MANE Select	ENSP00000498113.1:n.1807-19T>C
ENST00000302102.9:c.1807-19T>C	ENSP00000302397.5:n.1807-19T>C
ENST00000441343.5:c.1807-19T>C	ENSP00000411503.1:n.1807-19T>C
ENST00000543770.5:c.1840-19T>C	ENSP00000437577.1:n.1840-19T>C
ENST00000545399.5:c.1846-19T>C	ENSP00000444688.1:n.1846-19T>C
ENST00000602133.5:c.1717-19T>C	ENSP00000471581.1:n.1717-19T>C
NM_001256213.1:c.1840-19T>C	NP_001243142.1:n.1840-19T>C
NM_001256214.1:c.1846-19T>C	NP_001243143.1:n.1846-19T>C
NM_152296.4:c.1807-19T>C	NP_689509.1:n.1807-19T>C
XM_011526991.1:c.1717-19T>C	XP_011525293.1:n.1717-19T>C
NM_152296.5:c.1807-19T>C MANE Select	NP_689509.1:n.1807-19T>C
NM_001256214.2:c.1846-19T>C	NP_001243143.1:n.1846-19T>C
NM_001256213.2:c.1840-19T>C	NP_001243142.1:n.1840-19T>C