Canonical Allele Identifier: CA1756897544
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs1796885446
gnomAD v4: 8-616077-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616077A>T , CM000670.2:g.616077A>T GRCh38
NC_000008.10:g.566077A>T , CM000670.1:g.566077A>T GRCh37
NC_000008.9:g.556077A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-793T>A ENSP00000428635.1:n.977-793T>A
ENST00000523415.5:c.2302T>A
NM_001303100.1:c.*494T>A NP_001290029.1:n.*494T>A
XM_011534732.1:c.1442-793T>A XP_011533034.1:n.1442-793T>A
XM_011534735.1:c.*1929T>A XP_011533037.1:n.*1929T>A
XM_011534735.3:c.*1929T>A XP_011533037.1:n.*1929T>A
XM_017013124.2:c.1457-793T>A XP_016868613.1:n.1457-793T>A
NM_001303100.2:c.*494T>A NP_001290029.1:n.*494T>A
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