Canonical Allele Identifier: CA2685915126
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616052-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616052T>C , CM000670.2:g.616052T>C GRCh38
NC_000008.10:g.566052T>C , CM000670.1:g.566052T>C GRCh37
NC_000008.9:g.556052T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-768A>G ENSP00000428635.1:n.977-768A>G
ENST00000523415.5:c.2327A>G
NM_001303100.1:c.*519A>G NP_001290029.1:n.*519A>G
XM_011534732.1:c.1442-768A>G XP_011533034.1:n.1442-768A>G
XM_011534735.1:c.*1954A>G XP_011533037.1:n.*1954A>G
XM_011534735.3:c.*1954A>G XP_011533037.1:n.*1954A>G
XM_017013124.2:c.1457-768A>G XP_016868613.1:n.1457-768A>G
NM_001303100.2:c.*519A>G NP_001290029.1:n.*519A>G
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