Canonical Allele Identifier: CA2270149301

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917626A= , CM000679.2:g.63917626A=	GRCh38
NC_000017.10:g.61994986A= , CM000679.1:g.61994986A=	GRCh37
NC_000017.9:g.59348718A=	NCBI36
NG_011676.1:g.6213T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.457-120T= (GH1) MANE Select	ENSP00000312673.5:n.457-120T=
ENST00000647774.1:c.735-120T=
ENST00000323322.9:c.457-120T= (GH1)	ENSP00000312673.5:n.457-120T=
ENST00000342364.8:c.172-120T= (GH1)	ENSP00000339278.4:n.172-120T=
ENST00000351388.8:c.337-120T= (GH1)	ENSP00000343791.4:n.337-120T=
ENST00000392824.8:c.10+1141T= (CSHL1)	ENSP00000376569.5:n.10+1141T=
ENST00000458650.6:c.412-120T= (GH1)	ENSP00000408486.2:n.412-120T=
ENST00000579711.1:n.818-120T= (GH1)
ENST00000617086.1:c.11-120T= (GH1)	ENSP00000481276.1:n.11-120T=
NM_000515.4:c.457-120T= (GH1)	NP_000506.2:n.457-120T=
NM_022559.3:c.412-120T= (GH1)	NP_072053.1:n.412-120T=
NM_022560.3:c.337-120T= (GH1)	NP_072054.1:n.337-120T=
XM_011524612.1:c.457-120T= (GH1)	XP_011522914.1:n.457-120T=
XR_002958148.1:n.370A=
NM_000515.5:c.457-120T= (GH1) MANE Select	NP_000506.2:n.457-120T=
NM_022559.4:c.412-120T= (GH1)	NP_072053.1:n.412-120T=
NM_022560.4:c.337-120T= (GH1)	NP_072054.1:n.337-120T=