Canonical Allele Identifier: CA202715
Gene: GH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197151
dbSNP Id: rs5388

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63917810C>T , CM000679.2:g.63917810C>T GRCh38
NC_000017.10:g.61995170C>T , CM000679.1:g.61995170C>T GRCh37
NC_000017.9:g.59348902C>T NCBI36
NG_011676.1:g.6029G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323322.10:c.406G>A MANE Select ENSP00000312673.5:p.Val136Ile
ENST00000647774.1:n.684G>A
ENST00000323322.9:c.406G>A ENSP00000312673.5:p.Val136Ile
ENST00000342364.8:c.172-304G>A ENSP00000339278.4:p.=
ENST00000351388.8:c.286G>A ENSP00000343791.4:p.Val96Ile
ENST00000392824.8:c.10+957G>A ENSP00000376569.5:p.=
ENST00000458650.6:c.361G>A ENSP00000408486.2:p.Val121Ile
ENST00000579711.1:n.767G>A
ENST00000617086.1:c.11-304G>A ENSP00000481276.1:p.=
NM_000515.4:c.406G>A NP_000506.2:p.Val136Ile
NM_022559.3:c.361G>A NP_072053.1:p.Val121Ile
NM_022560.3:c.286G>A NP_072054.1:p.Val96Ile
XM_011524612.1:c.406G>A XP_011522914.1:p.Val136Ile
XR_002958148.1:n.409C>T
NM_000515.5:c.406G>A MANE Select NP_000506.2:p.Val136Ile
NM_022559.4:c.361G>A NP_072053.1:p.Val121Ile
NM_022560.4:c.286G>A NP_072054.1:p.Val96Ile