Canonical Allele Identifier: CA343244526
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130581G>T , CM000663.2:g.160130581G>T GRCh38
NC_000001.10:g.160100371G>T , CM000663.1:g.160100371G>T GRCh37
NC_000001.9:g.158366995G>T NCBI36
NG_008014.1:g.19824G>T , LRG_6:g.19824G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1811G>T MANE Select ENSP00000354490.3:p.Arg604Leu
ENST00000361216.7:c.1811G>T ENSP00000354490.3:p.Arg604Leu
ENST00000392233.7:c.1811G>T ENSP00000376066.3:p.Arg604Leu
ENST00000447527.1:c.943G>T
ENST00000472488.5:n.1914G>T
NM_000702.3:c.1811G>T NP_000693.1:p.Arg604Leu
NM_000702.4:c.1811G>T MANE Select NP_000693.1:p.Arg604Leu