Canonical Allele Identifier: CA2270149539

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918007A= , CM000679.2:g.63918007A=	GRCh38
NC_000017.10:g.61995367A= , CM000679.1:g.61995367A=	GRCh37
NC_000017.9:g.59349099A=	NCBI36
NG_011676.1:g.5832T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+10T= (GH1) MANE Select	ENSP00000312673.5:n.291+10T=
ENST00000647774.1:c.569+10T=
ENST00000323322.9:c.291+10T= (GH1)	ENSP00000312673.5:n.291+10T=
ENST00000342364.8:c.171+339T= (GH1)	ENSP00000339278.4:n.171+339T=
ENST00000351388.8:c.172-83T= (GH1)	ENSP00000343791.4:n.172-83T=
ENST00000392824.8:c.10+760T= (CSHL1)	ENSP00000376569.5:n.10+760T=
ENST00000458650.6:c.246+10T= (GH1)	ENSP00000408486.2:n.246+10T=
ENST00000579711.1:n.652+10T= (GH1)
ENST00000617086.1:c.11-501T= (GH1)	ENSP00000481276.1:n.11-501T=
NM_000515.4:c.291+10T= (GH1)	NP_000506.2:n.291+10T=
NM_022559.3:c.246+10T= (GH1)	NP_072053.1:n.246+10T=
NM_022560.3:c.172-83T= (GH1)	NP_072054.1:n.172-83T=
XM_011524612.1:c.291+10T= (GH1)	XP_011522914.1:n.291+10T=
NM_000515.5:c.291+10T= (GH1) MANE Select	NP_000506.2:n.291+10T=
NM_022559.4:c.246+10T= (GH1)	NP_072053.1:n.246+10T=
NM_022560.4:c.172-83T= (GH1)	NP_072054.1:n.172-83T=