Canonical Allele Identifier: CA1109508883
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs1796875269
gnomAD v3: 8-615843-A-T
gnomAD v4: 8-615843-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.615843A>T , CM000670.2:g.615843A>T GRCh38
NC_000008.10:g.565843A>T , CM000670.1:g.565843A>T GRCh37
NC_000008.9:g.555843A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-559T>A ENSP00000428635.1:n.977-559T>A
ENST00000523415.5:c.2536T>A
NM_001303100.1:c.*728T>A NP_001290029.1:n.*728T>A
XM_011534732.1:c.1442-559T>A XP_011533034.1:n.1442-559T>A
XM_011534735.1:c.*2163T>A XP_011533037.1:n.*2163T>A
XM_011534735.3:c.*2163T>A XP_011533037.1:n.*2163T>A
XM_017013124.2:c.1457-559T>A XP_016868613.1:n.1457-559T>A
NM_001303100.2:c.*728T>A NP_001290029.1:n.*728T>A
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