Canonical Allele Identifier: CA9467812

Gene: ATP1A3

Linked Data

• ClinVar Variation Id: 733579
• ClinVar RCV Id: RCV001460851
• dbSNP Id: rs782427535
• ExAC: 19:42489504 G / C
• gnomAD v2: 19-42489504-G-C
• gnomAD v3: 19-41985352-G-C
• gnomAD v4: 19-41985352-G-C
• MyVariant Identifiers: chr19:g.42489504G>C (hg19) ; chr19:g.41985352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985352G>C , CM000681.2:g.41985352G>C	GRCh38
NC_000019.9:g.42489504G>C , CM000681.1:g.42489504G>C	GRCh37
NC_000019.8:g.47181344G>C	NCBI36
NG_008015.1:g.13879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.717C>G	ENSP00000444688.1:p.Pro239=
ENST00000644613.1:c.678C>G	ENSP00000494711.1:p.Pro226=
ENST00000645448.1:n.910C>G
ENST00000648268.1:c.678C>G MANE Select	ENSP00000498113.1:p.Pro226=
ENST00000302102.9:c.678C>G	ENSP00000302397.5:p.Pro226=
ENST00000441343.5:c.678C>G	ENSP00000411503.1:p.Pro226=
ENST00000473086.3:c.588C>G	ENSP00000469129.2:p.Pro196=
ENST00000543770.5:c.711C>G	ENSP00000437577.1:p.Pro237=
ENST00000545399.5:c.717C>G	ENSP00000444688.1:p.Pro239=
ENST00000602133.5:c.588C>G	ENSP00000471581.1:p.Pro196=
NM_001256213.1:c.711C>G	NP_001243142.1:p.Pro237=
NM_001256214.1:c.717C>G	NP_001243143.1:p.Pro239=
NM_152296.4:c.678C>G	NP_689509.1:p.Pro226=
XM_011526991.1:c.588C>G	XP_011525293.1:p.Pro196=
NM_152296.5:c.678C>G MANE Select	NP_689509.1:p.Pro226=
NM_001256214.2:c.717C>G	NP_001243143.1:p.Pro239=
NM_001256213.2:c.711C>G	NP_001243142.1:p.Pro237=