Canonical Allele Identifier: CA976150884
Gene: ATP2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1596688433
gnomAD v3: 16-28902982-A-C
gnomAD v4: 16-28902982-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28902982A>C , CM000678.2:g.28902982A>C GRCh38
NC_000016.9:g.28914303A>C , CM000678.1:g.28914303A>C GRCh37
NC_000016.8:g.28821804A>C NCBI36
NG_023327.1:g.29495A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395503.9:c.2745-48A>C MANE Select ENSP00000378879.5:n.2745-48A>C
ENST00000357084.7:c.2745-48A>C ENSP00000349595.3:n.2745-48A>C
ENST00000395503.8:c.2745-48A>C ENSP00000378879.4:n.2745-48A>C
ENST00000536376.5:c.2370-48A>C ENSP00000443101.1:n.2370-48A>C
NM_001286075.1:c.2370-48A>C NP_001273004.1:n.2370-48A>C
NM_004320.4:c.2745-48A>C NP_004311.1:n.2745-48A>C
NM_173201.3:c.2745-48A>C NP_775293.1:n.2745-48A>C
NM_004320.6:c.2745-48A>C MANE Select NP_004311.1:n.2745-48A>C
NM_173201.4:c.2745-48A>C NP_775293.1:n.2745-48A>C
NM_001286075.2:c.2370-48A>C NP_001273004.1:n.2370-48A>C
NM_173201.5:c.2745-48A>C NP_775293.1:n.2745-48A>C
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