Canonical Allele Identifier: CA2685915122
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616048-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616048G>T , CM000670.2:g.616048G>T GRCh38
NC_000008.10:g.566048G>T , CM000670.1:g.566048G>T GRCh37
NC_000008.9:g.556048G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-764C>A ENSP00000428635.1:n.977-764C>A
ENST00000523415.5:c.2331C>A
NM_001303100.1:c.*523C>A NP_001290029.1:n.*523C>A
XM_011534732.1:c.1442-764C>A XP_011533034.1:n.1442-764C>A
XM_011534735.1:c.*1958C>A XP_011533037.1:n.*1958C>A
XM_011534735.3:c.*1958C>A XP_011533037.1:n.*1958C>A
XM_017013124.2:c.1457-764C>A XP_016868613.1:n.1457-764C>A
NM_001303100.2:c.*523C>A NP_001290029.1:n.*523C>A
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