Canonical Allele Identifier: CA9467810

Gene: ATP1A3

Linked Data

• dbSNP Id: rs782657023
• ExAC: 19:42489493 C / G
• gnomAD v2: 19-42489493-C-G
• MyVariant Identifiers: chr19:g.42489493C>G (hg19) ; chr19:g.41985341C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985341C>G , CM000681.2:g.41985341C>G	GRCh38
NC_000019.9:g.42489493C>G , CM000681.1:g.42489493C>G	GRCh37
NC_000019.8:g.47181333C>G	NCBI36
NG_008015.1:g.13890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.728G>C	ENSP00000444688.1:p.Arg243Pro
ENST00000644613.1:c.689G>C	ENSP00000494711.1:p.Arg230Pro
ENST00000645448.1:n.921G>C
ENST00000648268.1:c.689G>C MANE Select	ENSP00000498113.1:p.Arg230Pro
ENST00000302102.9:c.689G>C	ENSP00000302397.5:p.Arg230Pro
ENST00000441343.5:c.689G>C	ENSP00000411503.1:p.Arg230Pro
ENST00000473086.3:c.599G>C	ENSP00000469129.2:p.Arg200Pro
ENST00000485672.2:n.2G>C
ENST00000543770.5:c.722G>C	ENSP00000437577.1:p.Arg241Pro
ENST00000545399.5:c.728G>C	ENSP00000444688.1:p.Arg243Pro
ENST00000602133.5:c.599G>C	ENSP00000471581.1:p.Arg200Pro
NM_001256213.1:c.722G>C	NP_001243142.1:p.Arg241Pro
NM_001256214.1:c.728G>C	NP_001243143.1:p.Arg243Pro
NM_152296.4:c.689G>C	NP_689509.1:p.Arg230Pro
XM_011526991.1:c.599G>C	XP_011525293.1:p.Arg200Pro
NM_152296.5:c.689G>C MANE Select	NP_689509.1:p.Arg230Pro
NM_001256214.2:c.728G>C	NP_001243143.1:p.Arg243Pro
NM_001256213.2:c.722G>C	NP_001243142.1:p.Arg241Pro