Canonical Allele Identifier: CA406056451

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41988027C>G , CM000681.2:g.41988027C>G	GRCh38
NC_000019.9:g.42492179C>G , CM000681.1:g.42492179C>G	GRCh37
NC_000019.8:g.47184019C>G	NCBI36
NG_008015.1:g.11204G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.266G>C MANE Select	NP_689509.1:p.Gly89Ala
ENST00000648268.1:c.266G>C MANE Select	ENSP00000498113.1:p.Gly89Ala
NM_001256213.1:c.299G>C	NP_001243142.1:p.Gly100Ala
NM_001256213.2:c.299G>C	NP_001243142.1:p.Gly100Ala
NM_001256214.1:c.305G>C	NP_001243143.1:p.Gly102Ala
NM_001256214.2:c.305G>C	NP_001243143.1:p.Gly102Ala
NM_152296.4:c.266G>C	NP_689509.1:p.Gly89Ala
ENST00000302102.9:c.266G>C	ENSP00000302397.5:p.Gly89Ala
ENST00000441343.5:c.266G>C	ENSP00000411503.1:p.Gly89Ala
ENST00000468774.3:n.575G>C
ENST00000473086.3:c.176G>C	ENSP00000469129.2:p.Gly59Ala
ENST00000543770.5:c.299G>C	ENSP00000437577.1:p.Gly100Ala
ENST00000545399.5:c.305G>C	ENSP00000444688.1:p.Gly102Ala
ENST00000545399.6:c.305G>C	ENSP00000444688.1:p.Gly102Ala
ENST00000602133.5:c.176G>C	ENSP00000471581.1:p.Gly59Ala
ENST00000644613.1:c.266G>C	ENSP00000494711.1:p.Gly89Ala
XM_011526991.1:c.176G>C	XP_011525293.1:p.Gly59Ala