Canonical Allele Identifier: CA350637287
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060320T>C , CM000664.2:g.219060320T>C GRCh38
NC_000002.11:g.219925042T>C , CM000664.1:g.219925042T>C GRCh37
NC_000002.10:g.219633286T>C NCBI36
NG_016741.1:g.5197A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.148A>G MANE Select ENSP00000295731.5:p.Lys50Glu
ENST00000295731.6:c.148A>G ENSP00000295731.5:p.Lys50Glu
NM_002181.3:c.148A>G NP_002172.2:p.Lys50Glu
NM_002181.4:c.148A>G MANE Select NP_002172.2:p.Lys50Glu