Canonical Allele Identifier: CA406058107

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41988564T>G , CM000681.2:g.41988564T>G	GRCh38
NC_000019.9:g.42492716T>G , CM000681.1:g.42492716T>G	GRCh37
NC_000019.8:g.47184556T>G	NCBI36
NG_008015.1:g.10667A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.7-2A>C MANE Select	NP_689509.1:n.7-2A>C
ENST00000648268.1:c.7-2A>C MANE Select	ENSP00000498113.1:n.7-2A>C
NM_001256213.1:c.40-2A>C	NP_001243142.1:n.40-2A>C
NM_001256213.2:c.40-2A>C	NP_001243142.1:n.40-2A>C
NM_001256214.1:c.44A>C	NP_001243143.1:p.Gln15Pro
NM_001256214.2:c.44A>C	NP_001243143.1:p.Gln15Pro
NM_152296.4:c.7-2A>C	NP_689509.1:n.7-2A>C
ENST00000302102.9:c.7-2A>C	ENSP00000302397.5:n.7-2A>C
ENST00000441343.5:c.7-2A>C	ENSP00000411503.1:n.7-2A>C
ENST00000468774.3:n.316-2A>C
ENST00000473086.3:c.-84-2A>C	ENSP00000469129.2:n.-84-2A>C
ENST00000543770.5:c.40-2A>C	ENSP00000437577.1:n.40-2A>C
ENST00000545399.5:c.44A>C	ENSP00000444688.1:p.Gln15Pro
ENST00000545399.6:c.44A>C	ENSP00000444688.1:p.Gln15Pro
ENST00000602133.5:c.-84-2A>C	ENSP00000471581.1:n.-84-2A>C
ENST00000636197.1:c.-84-2A>C	ENSP00000489877.1:n.-84-2A>C
ENST00000636258.1:n.28-2A>C
ENST00000636282.1:n.29-2A>C
ENST00000637406.1:n.46-2A>C
ENST00000644613.1:c.7-2A>C	ENSP00000494711.1:n.7-2A>C
XM_011526991.1:c.-84-2A>C	XP_011525293.1:n.-84-2A>C