Canonical Allele Identifier: CA2685915127
Gene: ERICH1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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