Canonical Allele Identifier: CA361785266

Gene: IRGM

Linked Data

• dbSNP Id: rs1753914166
• gnomAD v4: 5-150848346-T-C
• MyVariant Identifiers: chr5:g.150227908T>C (hg19) ; chr5:g.150848346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150848346T>C , CM000667.2:g.150848346T>C	GRCh38
NC_000005.9:g.150227908T>C , CM000667.1:g.150227908T>C	GRCh37
NC_000005.8:g.150208101T>C	NCBI36
NG_027809.1:g.6824T>C
NG_027809.2:g.6824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522154.2:c.223T>C MANE Select	ENSP00000428220.1:p.Cys75Arg
ENST00000522154.1:c.223T>C	ENSP00000428220.1:p.Cys75Arg
NM_001145805.1:c.223T>C	NP_001139277.1:p.Cys75Arg
XM_011537641.1:c.223T>C	XP_011535943.1:p.Cys75Arg
NM_001346557.1:c.223T>C	NP_001333486.1:p.Cys75Arg
NM_001346557.2:c.223T>C	NP_001333486.1:p.Cys75Arg
NM_001145805.2:c.223T>C MANE Select	NP_001139277.1:p.Cys75Arg
NR_170598.1:n.1338T>C