Canonical Allele Identifier: CA2685915017
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-615844-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.615844A>T , CM000670.2:g.615844A>T GRCh38
NC_000008.10:g.565844A>T , CM000670.1:g.565844A>T GRCh37
NC_000008.9:g.555844A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-560T>A ENSP00000428635.1:n.977-560T>A
ENST00000523415.5:c.2535T>A
NM_001303100.1:c.*727T>A NP_001290029.1:n.*727T>A
XM_011534732.1:c.1442-560T>A XP_011533034.1:n.1442-560T>A
XM_011534735.1:c.*2162T>A XP_011533037.1:n.*2162T>A
XM_011534735.3:c.*2162T>A XP_011533037.1:n.*2162T>A
XM_017013124.2:c.1457-560T>A XP_016868613.1:n.1457-560T>A
NM_001303100.2:c.*727T>A NP_001290029.1:n.*727T>A