Canonical Allele Identifier: CA350637223
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060310C>A , CM000664.2:g.219060310C>A GRCh38
NC_000002.11:g.219925032C>A , CM000664.1:g.219925032C>A GRCh37
NC_000002.10:g.219633276C>A NCBI36
NG_016741.1:g.5207G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.158G>T MANE Select ENSP00000295731.5:p.Ser53Ile
ENST00000295731.6:c.158G>T ENSP00000295731.5:p.Ser53Ile
NM_002181.3:c.158G>T NP_002172.2:p.Ser53Ile
NM_002181.4:c.158G>T MANE Select NP_002172.2:p.Ser53Ile