Canonical Allele Identifier: CA2336727984

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984957G= , CM000681.2:g.41984957G=	GRCh38
NC_000019.9:g.42489109G= , CM000681.1:g.42489109G=	GRCh37
NC_000019.8:g.47180949G=	NCBI36
NG_008015.1:g.14274C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.993C=	ENSP00000444688.1:p.Ile331=
ENST00000644613.1:c.954C=	ENSP00000494711.1:p.Ile318=
ENST00000648268.1:c.954C= MANE Select	ENSP00000498113.1:p.Ile318=
ENST00000302102.9:c.954C=	ENSP00000302397.5:p.Ile318=
ENST00000441343.5:c.954C=	ENSP00000411503.1:p.Ile318=
ENST00000485672.2:n.267C=
ENST00000543770.5:c.987C=	ENSP00000437577.1:p.Ile329=
ENST00000545399.5:c.993C=	ENSP00000444688.1:p.Ile331=
ENST00000602133.5:c.864C=	ENSP00000471581.1:p.Ile288=
NM_001256213.1:c.987C=	NP_001243142.1:p.Ile329=
NM_001256214.1:c.993C=	NP_001243143.1:p.Ile331=
NM_152296.4:c.954C=	NP_689509.1:p.Ile318=
XM_011526991.1:c.864C=	XP_011525293.1:p.Ile288=
NM_152296.5:c.954C= MANE Select	NP_689509.1:p.Ile318=
NM_001256214.2:c.993C=	NP_001243143.1:p.Ile331=
NM_001256213.2:c.987C=	NP_001243142.1:p.Ile329=