Canonical Allele Identifier: CA361785047

Gene: IRGM

Linked Data

• gnomAD v4: 5-150848239-C-T
• MyVariant Identifiers: chr5:g.150227801C>T (hg19) ; chr5:g.150848239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150848239C>T , CM000667.2:g.150848239C>T	GRCh38
NC_000005.9:g.150227801C>T , CM000667.1:g.150227801C>T	GRCh37
NC_000005.8:g.150207994C>T	NCBI36
NG_027809.1:g.6717C>T
NG_027809.2:g.6717C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000522154.2:c.116C>T MANE Select	ENSP00000428220.1:p.Ala39Val
ENST00000522154.1:c.116C>T	ENSP00000428220.1:p.Ala39Val
NM_001145805.1:c.116C>T	NP_001139277.1:p.Ala39Val
XM_011537641.1:c.116C>T	XP_011535943.1:p.Ala39Val
NM_001346557.1:c.116C>T	NP_001333486.1:p.Ala39Val
NM_001346557.2:c.116C>T	NP_001333486.1:p.Ala39Val
NM_001145805.2:c.116C>T MANE Select	NP_001139277.1:p.Ala39Val
NR_170598.1:n.1231C>T