Canonical Allele Identifier: CA378890940
Gene: IFITM5 HGNC NCBI

Linked Data

dbSNP Id: rs1320606925
gnomAD v2: 11-299403-G-A
gnomAD v3: 11-299403-G-A
gnomAD v4: 11-299403-G-A
MyVariant Identifiers: chr11:g.299403G>A (hg19) chr11:g.299403G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.299403G>A , CM000673.2:g.299403G>A GRCh38
NC_000011.9:g.299403G>A , CM000673.1:g.299403G>A GRCh37
NC_000011.8:g.289403G>A NCBI36
NG_032892.1:g.5124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382614.2:c.88C>T MANE Select ENSP00000372059.2:p.His30Tyr
NM_001025295.2:c.88C>T NP_001020466.1:p.His30Tyr
NM_001025295.3:c.88C>T MANE Select NP_001020466.1:p.His30Tyr
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