Canonical Allele Identifier: CA2778691737

Gene: ERICH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616101T>C , CM000670.2:g.616101T>C	GRCh38
NC_000008.10:g.566101T>C , CM000670.1:g.566101T>C	GRCh37
NC_000008.9:g.556101T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-817A>G	ENSP00000428635.1:n.977-817A>G
ENST00000523415.5:c.2278A>G
NM_001303100.1:c.*470A>G	NP_001290029.1:n.*470A>G
XM_011534732.1:c.1442-817A>G	XP_011533034.1:n.1442-817A>G
XM_011534735.1:c.*1905A>G	XP_011533037.1:n.*1905A>G
XM_011534735.3:c.*1905A>G	XP_011533037.1:n.*1905A>G
XM_017013124.2:c.1457-817A>G	XP_016868613.1:n.1457-817A>G
NM_001303100.2:c.*470A>G	NP_001290029.1:n.*470A>G