Canonical Allele Identifier: CA2685915231
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616171-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616171A>G , CM000670.2:g.616171A>G GRCh38
NC_000008.10:g.566171A>G , CM000670.1:g.566171A>G GRCh37
NC_000008.9:g.556171A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-887T>C ENSP00000428635.1:n.977-887T>C
ENST00000523415.5:c.2208T>C
NM_001303100.1:c.*400T>C NP_001290029.1:n.*400T>C
XM_011534732.1:c.1442-887T>C XP_011533034.1:n.1442-887T>C
XM_011534735.1:c.*1835T>C XP_011533037.1:n.*1835T>C
XM_011534735.3:c.*1835T>C XP_011533037.1:n.*1835T>C
XM_017013124.2:c.1457-887T>C XP_016868613.1:n.1457-887T>C
NM_001303100.2:c.*400T>C NP_001290029.1:n.*400T>C
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