Canonical Allele Identifier: CA1327644421

Gene: MREG PECR

Linked Data

• dbSNP Id: rs1574669130
• gnomAD v4: 2-216034017-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216034017G>A , CM000664.2:g.216034017G>A	GRCh38
NC_000002.11:g.216898740G>A , CM000664.1:g.216898740G>A	GRCh37
NC_000002.10:g.216606985G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424992.5:c.-123C>T (MREG)	ENSP00000413302.1:n.-123C>T
ENST00000442122.5:c.*440+5174C>T (PECR)	ENSP00000395512.1:n.*440+5174C>T
XR_001738847.2:n.1056-1165C>T (PECR)
NM_001372189.1:c.-123C>T (MREG)	NP_001359118.1:n.-123C>T