Canonical Allele Identifier: CA129176911
Gene: IRGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2383556
ClinVar RCV Id: RCV002703616
dbSNP Id: rs978814079
gnomAD v2: 5-150227918-A-G
gnomAD v3: 5-150848356-A-G
gnomAD v4: 5-150848356-A-G
MyVariant Identifiers: chr5:g.150227918A>G (hg19) chr5:g.150848356A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150848356A>G , CM000667.2:g.150848356A>G GRCh38
NC_000005.9:g.150227918A>G , CM000667.1:g.150227918A>G GRCh37
NC_000005.8:g.150208111A>G NCBI36
NG_027809.1:g.6834A>G
NG_027809.2:g.6834A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000522154.2:c.233A>G MANE Select ENSP00000428220.1:p.Tyr78Cys
ENST00000522154.1:c.233A>G ENSP00000428220.1:p.Tyr78Cys
NM_001145805.1:c.233A>G NP_001139277.1:p.Tyr78Cys
XM_011537641.1:c.233A>G XP_011535943.1:p.Tyr78Cys
NM_001346557.1:c.233A>G NP_001333486.1:p.Tyr78Cys
NM_001346557.2:c.233A>G NP_001333486.1:p.Tyr78Cys
NM_001145805.2:c.233A>G MANE Select NP_001139277.1:p.Tyr78Cys
NR_170598.1:n.1348A>G
Search 100 bp 5'
Search 100 bp 3'