Canonical Allele Identifier: CA350637232
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060311T>G , CM000664.2:g.219060311T>G GRCh38
NC_000002.11:g.219925033T>G , CM000664.1:g.219925033T>G GRCh37
NC_000002.10:g.219633277T>G NCBI36
NG_016741.1:g.5206A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.157A>C MANE Select ENSP00000295731.5:p.Ser53Arg
ENST00000295731.6:c.157A>C ENSP00000295731.5:p.Ser53Arg
NM_002181.3:c.157A>C NP_002172.2:p.Ser53Arg
NM_002181.4:c.157A>C MANE Select NP_002172.2:p.Ser53Arg