Canonical Allele Identifier: CA853937430

Gene: ERICH1

Linked Data

• dbSNP Id: rs12676486
• MyVariant Identifiers: chr8:g.566173G>T (hg19) ; chr8:g.616173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616173G>T , CM000670.2:g.616173G>T	GRCh38
NC_000008.10:g.566173G>T , CM000670.1:g.566173G>T	GRCh37
NC_000008.9:g.556173G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-889C>A	ENSP00000428635.1:n.977-889C>A
ENST00000523415.5:c.2206C>A
NM_001303100.1:c.*398C>A	NP_001290029.1:n.*398C>A
XM_011534732.1:c.1442-889C>A	XP_011533034.1:n.1442-889C>A
XM_011534735.1:c.*1833C>A	XP_011533037.1:n.*1833C>A
XM_011534735.3:c.*1833C>A	XP_011533037.1:n.*1833C>A
XM_017013124.2:c.1457-889C>A	XP_016868613.1:n.1457-889C>A
NM_001303100.2:c.*398C>A	NP_001290029.1:n.*398C>A