Canonical Allele Identifier: CA337804519
Gene: ISG15 HGNC NCBI

Linked Data

dbSNP Id: rs1486574648
gnomAD v2: 1-949598-G-A
gnomAD v3: 1-1014218-G-A
gnomAD v4: 1-1014218-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014218G>A , CM000663.2:g.1014218G>A GRCh38
NC_000001.10:g.949598G>A , CM000663.1:g.949598G>A GRCh37
NC_000001.9:g.939461G>A NCBI36
NG_033033.1:g.5752G>A
NG_033033.2:g.18081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.214G>A ENSP00000485643.1:p.Glu72Lys
ENST00000649529.1:c.238G>A MANE Select ENSP00000496832.1:p.Glu80Lys
ENST00000379389.4:c.238G>A ENSP00000368699.4:p.Glu80Lys
ENST00000624652.1:c.214G>A ENSP00000485313.1:p.Glu72Lys
ENST00000624697.3:c.214G>A ENSP00000485643.1:p.Glu72Lys
NM_005101.3:c.238G>A NP_005092.1:p.Glu80Lys
NM_005101.4:c.238G>A MANE Select NP_005092.1:p.Glu80Lys