Canonical Allele Identifier: CA2685915272
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616217-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616217T>G , CM000670.2:g.616217T>G GRCh38
NC_000008.10:g.566217T>G , CM000670.1:g.566217T>G GRCh37
NC_000008.9:g.556217T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000522706.5:c.977-933A>C ENSP00000428635.1:n.977-933A>C
ENST00000523415.5:c.2162A>C
NM_001303100.1:c.*354A>C NP_001290029.1:n.*354A>C
XM_011534732.1:c.1442-933A>C XP_011533034.1:n.1442-933A>C
XM_011534735.1:c.*1789A>C XP_011533037.1:n.*1789A>C
XM_011534735.3:c.*1789A>C XP_011533037.1:n.*1789A>C
XM_017013124.2:c.1457-933A>C XP_016868613.1:n.1457-933A>C
NM_001303100.2:c.*354A>C NP_001290029.1:n.*354A>C
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