Canonical Allele Identifier: CA129183138

Gene: IRGM

Linked Data

• dbSNP Id: rs934036814
• gnomAD v2: 5-150240326-C-T
• gnomAD v3: 5-150860764-C-T
• gnomAD v4: 5-150860764-C-T
• MyVariant Identifiers: chr5:g.150240326C>T (hg19) ; chr5:g.150860764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150860764C>T , CM000667.2:g.150860764C>T	GRCh38
NC_000005.9:g.150240326C>T , CM000667.1:g.150240326C>T	GRCh37
NC_000005.8:g.150220519C>T	NCBI36
NG_027809.2:g.19242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520549.1:c.158+12110C>T
XM_011537641.1:c.531+12110C>T	XP_011535943.1:n.531+12110C>T
NM_001346557.1:c.531+12110C>T	NP_001333486.1:n.531+12110C>T
NM_001346557.2:c.531+12110C>T	NP_001333486.1:n.531+12110C>T
NR_170598.1:n.1646+12110C>T