Canonical Allele Identifier: CA9467818

Gene: ATP1A3

Linked Data

• dbSNP Id: rs201302324
• ExAC: 19:42489527 G / C
• gnomAD v2: 19-42489527-G-C
• MyVariant Identifiers: chr19:g.42489527G>C (hg19) ; chr19:g.41985375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985375G>C , CM000681.2:g.41985375G>C	GRCh38
NC_000019.9:g.42489527G>C , CM000681.1:g.42489527G>C	GRCh37
NC_000019.8:g.47181367G>C	NCBI36
NG_008015.1:g.13856C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.694C>G	ENSP00000444688.1:p.Pro232Ala
ENST00000644613.1:c.655C>G	ENSP00000494711.1:p.Pro219Ala
ENST00000645448.1:n.887C>G
ENST00000648268.1:c.655C>G MANE Select	ENSP00000498113.1:p.Pro219Ala
ENST00000302102.9:c.655C>G	ENSP00000302397.5:p.Pro219Ala
ENST00000441343.5:c.655C>G	ENSP00000411503.1:p.Pro219Ala
ENST00000473086.3:c.565C>G	ENSP00000469129.2:p.Pro189Ala
ENST00000543770.5:c.688C>G	ENSP00000437577.1:p.Pro230Ala
ENST00000545399.5:c.694C>G	ENSP00000444688.1:p.Pro232Ala
ENST00000602133.5:c.565C>G	ENSP00000471581.1:p.Pro189Ala
NM_001256213.1:c.688C>G	NP_001243142.1:p.Pro230Ala
NM_001256214.1:c.694C>G	NP_001243143.1:p.Pro232Ala
NM_152296.4:c.655C>G	NP_689509.1:p.Pro219Ala
XM_011526991.1:c.565C>G	XP_011525293.1:p.Pro189Ala
NM_152296.5:c.655C>G MANE Select	NP_689509.1:p.Pro219Ala
NM_001256214.2:c.694C>G	NP_001243143.1:p.Pro232Ala
NM_001256213.2:c.688C>G	NP_001243142.1:p.Pro230Ala