×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA343237213
Gene: ATP1A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
585463
ClinVar RCV Id:
RCV003128252
dbSNP Id:
rs777400961
gnomAD v4:
1-160127591-C-T
MyVariant Identifiers:
chr1:g.160097381C>T (hg19)
chr1:g.160127591C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160127591C>T , CM000663.2:g.160127591C>T
GRCh38
NC_000001.10:g.160097381C>T , CM000663.1:g.160097381C>T
GRCh37
NC_000001.9:g.158364005C>T
NCBI36
NG_008014.1:g.16834C>T , LRG_6:g.16834C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000361216.8:c.788C>T
MANE Select
ENSP00000354490.3:p.Thr263Met
ENST00000361216.7:c.788C>T
ENSP00000354490.3:p.Thr263Met
ENST00000392233.7:c.788C>T
ENSP00000376066.3:p.Thr263Met
ENST00000472488.5:n.891C>T
NM_000702.3:c.788C>T
NP_000693.1:p.Thr263Met
NM_000702.4:c.788C>T
MANE Select
NP_000693.1:p.Thr263Met
Search 100 bp 5'
Search 100 bp 3'