Canonical Allele Identifier: CA406046143
Gene: ATP1A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41978312A>T , CM000681.2:g.41978312A>T GRCh38
NC_000019.9:g.42482464A>T , CM000681.1:g.42482464A>T GRCh37
NC_000019.8:g.47174304A>T NCBI36
NG_008015.1:g.20919T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.1684T>A ENSP00000444688.1:p.Tyr562Asn
ENST00000644613.1:c.1645T>A ENSP00000494711.1:p.Tyr549Asn
ENST00000648268.1:c.1645T>A MANE Select ENSP00000498113.1:p.Tyr549Asn
ENST00000302102.9:c.1645T>A ENSP00000302397.5:p.Tyr549Asn
ENST00000441343.5:c.1645T>A ENSP00000411503.1:p.Tyr549Asn
ENST00000543770.5:c.1678T>A ENSP00000437577.1:p.Tyr560Asn
ENST00000545399.5:c.1684T>A ENSP00000444688.1:p.Tyr562Asn
ENST00000602133.5:c.1555T>A ENSP00000471581.1:p.Tyr519Asn
NM_001256213.1:c.1678T>A NP_001243142.1:p.Tyr560Asn
NM_001256214.1:c.1684T>A NP_001243143.1:p.Tyr562Asn
NM_152296.4:c.1645T>A NP_689509.1:p.Tyr549Asn
XM_011526991.1:c.1555T>A XP_011525293.1:p.Tyr519Asn
NM_152296.5:c.1645T>A MANE Select NP_689509.1:p.Tyr549Asn
NM_001256214.2:c.1684T>A NP_001243143.1:p.Tyr562Asn
NM_001256213.2:c.1678T>A NP_001243142.1:p.Tyr560Asn