Canonical Allele Identifier: CA170202215
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs755557070
gnomAD v3: 8-616061-A-G
gnomAD v4: 8-616061-A-G
MyVariant Identifiers: chr8:g.566061A>G (hg19) chr8:g.616061A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616061A>G , CM000670.2:g.616061A>G GRCh38
NC_000008.10:g.566061A>G , CM000670.1:g.566061A>G GRCh37
NC_000008.9:g.556061A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-777T>C ENSP00000428635.1:n.977-777T>C
ENST00000523415.5:c.2318T>C
NM_001303100.1:c.*510T>C NP_001290029.1:n.*510T>C
XM_011534732.1:c.1442-777T>C XP_011533034.1:n.1442-777T>C
XM_011534735.1:c.*1945T>C XP_011533037.1:n.*1945T>C
XM_011534735.3:c.*1945T>C XP_011533037.1:n.*1945T>C
XM_017013124.2:c.1457-777T>C XP_016868613.1:n.1457-777T>C
NM_001303100.2:c.*510T>C NP_001290029.1:n.*510T>C
Search 100 bp 5'
Search 100 bp 3'