Canonical Allele Identifier: CA406045830
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978261C>A , CM000681.2:g.41978261C>A GRCh38
NC_000019.9:g.42482413C>A , CM000681.1:g.42482413C>A GRCh37
NC_000019.8:g.47174253C>A NCBI36
NG_008015.1:g.20970G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1735G>T ENSP00000444688.1:p.Val579Leu
ENST00000644613.1:c.1696G>T ENSP00000494711.1:p.Val566Leu
ENST00000648268.1:c.1696G>T MANE Select ENSP00000498113.1:p.Val566Leu
ENST00000302102.9:c.1696G>T ENSP00000302397.5:p.Val566Leu
ENST00000441343.5:c.1696G>T ENSP00000411503.1:p.Val566Leu
ENST00000543770.5:c.1729G>T ENSP00000437577.1:p.Val577Leu
ENST00000545399.5:c.1735G>T ENSP00000444688.1:p.Val579Leu
ENST00000602133.5:c.1606G>T ENSP00000471581.1:p.Val536Leu
NM_001256213.1:c.1729G>T NP_001243142.1:p.Val577Leu
NM_001256214.1:c.1735G>T NP_001243143.1:p.Val579Leu
NM_152296.4:c.1696G>T NP_689509.1:p.Val566Leu
XM_011526991.1:c.1606G>T XP_011525293.1:p.Val536Leu
NM_152296.5:c.1696G>T MANE Select NP_689509.1:p.Val566Leu
NM_001256214.2:c.1735G>T NP_001243143.1:p.Val579Leu
NM_001256213.2:c.1729G>T NP_001243142.1:p.Val577Leu