Canonical Allele Identifier: CA2685915175
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616102-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616102A>G , CM000670.2:g.616102A>G GRCh38
NC_000008.10:g.566102A>G , CM000670.1:g.566102A>G GRCh37
NC_000008.9:g.556102A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-818T>C ENSP00000428635.1:n.977-818T>C
ENST00000523415.5:c.2277T>C
NM_001303100.1:c.*469T>C NP_001290029.1:n.*469T>C
XM_011534732.1:c.1442-818T>C XP_011533034.1:n.1442-818T>C
XM_011534735.1:c.*1904T>C XP_011533037.1:n.*1904T>C
XM_011534735.3:c.*1904T>C XP_011533037.1:n.*1904T>C
XM_017013124.2:c.1457-818T>C XP_016868613.1:n.1457-818T>C
NM_001303100.2:c.*469T>C NP_001290029.1:n.*469T>C
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