Canonical Allele Identifier: CA406046838

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41978687C>G , CM000681.2:g.41978687C>G	GRCh38
NC_000019.9:g.42482839C>G , CM000681.1:g.42482839C>G	GRCh37
NC_000019.8:g.47174679C>G	NCBI36
NG_008015.1:g.20544G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152296.5:c.1549G>C MANE Select	NP_689509.1:p.Glu517Gln
ENST00000648268.1:c.1549G>C MANE Select	ENSP00000498113.1:p.Glu517Gln
NM_001256213.1:c.1582G>C	NP_001243142.1:p.Glu528Gln
NM_001256213.2:c.1582G>C	NP_001243142.1:p.Glu528Gln
NM_001256214.1:c.1588G>C	NP_001243143.1:p.Glu530Gln
NM_001256214.2:c.1588G>C	NP_001243143.1:p.Glu530Gln
NM_152296.4:c.1549G>C	NP_689509.1:p.Glu517Gln
ENST00000302102.9:c.1549G>C	ENSP00000302397.5:p.Glu517Gln
ENST00000441343.5:c.1549G>C	ENSP00000411503.1:p.Glu517Gln
ENST00000543770.5:c.1582G>C	ENSP00000437577.1:p.Glu528Gln
ENST00000545399.5:c.1588G>C	ENSP00000444688.1:p.Glu530Gln
ENST00000545399.6:c.1588G>C	ENSP00000444688.1:p.Glu530Gln
ENST00000602133.5:c.1459G>C	ENSP00000471581.1:p.Glu487Gln
ENST00000644613.1:c.1549G>C	ENSP00000494711.1:p.Glu517Gln
XM_011526991.1:c.1459G>C	XP_011525293.1:p.Glu487Gln