Canonical Allele Identifier: CA361785063
Gene: IRGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.150227809T>C (hg19) chr5:g.150848247T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150848247T>C , CM000667.2:g.150848247T>C GRCh38
NC_000005.9:g.150227809T>C , CM000667.1:g.150227809T>C GRCh37
NC_000005.8:g.150208002T>C NCBI36
NG_027809.1:g.6725T>C
NG_027809.2:g.6725T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000522154.2:c.124T>C MANE Select ENSP00000428220.1:p.Ser42Pro
ENST00000522154.1:c.124T>C ENSP00000428220.1:p.Ser42Pro
NM_001145805.1:c.124T>C NP_001139277.1:p.Ser42Pro
XM_011537641.1:c.124T>C XP_011535943.1:p.Ser42Pro
NM_001346557.1:c.124T>C NP_001333486.1:p.Ser42Pro
NM_001346557.2:c.124T>C NP_001333486.1:p.Ser42Pro
NM_001145805.2:c.124T>C MANE Select NP_001139277.1:p.Ser42Pro
NR_170598.1:n.1239T>C
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