Canonical Allele Identifier: CA2270149449

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917889G= , CM000679.2:g.63917889G=	GRCh38
NC_000017.10:g.61995249G= , CM000679.1:g.61995249G=	GRCh37
NC_000017.9:g.59348981G=	NCBI36
NG_011676.1:g.5950C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.327C= (GH1) MANE Select	ENSP00000312673.5:p.Ile109=
ENST00000647774.1:c.605C=
ENST00000323322.9:c.327C= (GH1)	ENSP00000312673.5:p.Ile109=
ENST00000342364.8:c.172-383C= (GH1)	ENSP00000339278.4:n.172-383C=
ENST00000351388.8:c.207C= (GH1)	ENSP00000343791.4:p.Ile69=
ENST00000392824.8:c.10+878C= (CSHL1)	ENSP00000376569.5:n.10+878C=
ENST00000458650.6:c.282C= (GH1)	ENSP00000408486.2:p.Ile94=
ENST00000579711.1:n.688C= (GH1)
ENST00000617086.1:c.11-383C= (GH1)	ENSP00000481276.1:n.11-383C=
NM_000515.4:c.327C= (GH1)	NP_000506.2:p.Ile109=
NM_022559.3:c.282C= (GH1)	NP_072053.1:p.Ile94=
NM_022560.3:c.207C= (GH1)	NP_072054.1:p.Ile69=
XM_011524612.1:c.327C= (GH1)	XP_011522914.1:p.Ile109=
NM_000515.5:c.327C= (GH1) MANE Select	NP_000506.2:p.Ile109=
NM_022559.4:c.282C= (GH1)	NP_072053.1:p.Ile94=
NM_022560.4:c.207C= (GH1)	NP_072054.1:p.Ile69=