Canonical Allele Identifier: CA2685915183
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616118-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616118T>G , CM000670.2:g.616118T>G GRCh38
NC_000008.10:g.566118T>G , CM000670.1:g.566118T>G GRCh37
NC_000008.9:g.556118T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000522706.5:c.977-834A>C ENSP00000428635.1:n.977-834A>C
ENST00000523415.5:c.2261A>C
NM_001303100.1:c.*453A>C NP_001290029.1:n.*453A>C
XM_011534732.1:c.1442-834A>C XP_011533034.1:n.1442-834A>C
XM_011534735.1:c.*1888A>C XP_011533037.1:n.*1888A>C
XM_011534735.3:c.*1888A>C XP_011533037.1:n.*1888A>C
XM_017013124.2:c.1457-834A>C XP_016868613.1:n.1457-834A>C
NM_001303100.2:c.*453A>C NP_001290029.1:n.*453A>C
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