Canonical Allele Identifier: CA2685915146
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616074-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616074A>C , CM000670.2:g.616074A>C GRCh38
NC_000008.10:g.566074A>C , CM000670.1:g.566074A>C GRCh37
NC_000008.9:g.556074A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-790T>G ENSP00000428635.1:n.977-790T>G
ENST00000523415.5:c.2305T>G
NM_001303100.1:c.*497T>G NP_001290029.1:n.*497T>G
XM_011534732.1:c.1442-790T>G XP_011533034.1:n.1442-790T>G
XM_011534735.1:c.*1932T>G XP_011533037.1:n.*1932T>G
XM_011534735.3:c.*1932T>G XP_011533037.1:n.*1932T>G
XM_017013124.2:c.1457-790T>G XP_016868613.1:n.1457-790T>G
NM_001303100.2:c.*497T>G NP_001290029.1:n.*497T>G
Search 100 bp 5'
Search 100 bp 3'