Canonical Allele Identifier: CA2778691722

Gene: ERICH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615789G>A , CM000670.2:g.615789G>A	GRCh38
NC_000008.10:g.565789G>A , CM000670.1:g.565789G>A	GRCh37
NC_000008.9:g.555789G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-505C>T	ENSP00000428635.1:n.977-505C>T
ENST00000523415.5:c.2590C>T
NM_001303100.1:c.*782C>T	NP_001290029.1:n.*782C>T
XM_011534732.1:c.1442-505C>T	XP_011533034.1:n.1442-505C>T
XM_011534735.1:c.*2217C>T	XP_011533037.1:n.*2217C>T
XM_011534735.3:c.*2217C>T	XP_011533037.1:n.*2217C>T
XM_017013124.2:c.1457-505C>T	XP_016868613.1:n.1457-505C>T
NM_001303100.2:c.*782C>T	NP_001290029.1:n.*782C>T