Canonical Allele Identifier: CA2270149536

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918004G= , CM000679.2:g.63918004G=	GRCh38
NC_000017.10:g.61995364G= , CM000679.1:g.61995364G=	GRCh37
NC_000017.9:g.59349096G=	NCBI36
NG_011676.1:g.5835C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+13C= (GH1) MANE Select	ENSP00000312673.5:n.291+13C=
ENST00000647774.1:c.569+13C=
ENST00000323322.9:c.291+13C= (GH1)	ENSP00000312673.5:n.291+13C=
ENST00000342364.8:c.171+342C= (GH1)	ENSP00000339278.4:n.171+342C=
ENST00000351388.8:c.172-80C= (GH1)	ENSP00000343791.4:n.172-80C=
ENST00000392824.8:c.10+763C= (CSHL1)	ENSP00000376569.5:n.10+763C=
ENST00000458650.6:c.246+13C= (GH1)	ENSP00000408486.2:n.246+13C=
ENST00000579711.1:n.652+13C= (GH1)
ENST00000617086.1:c.11-498C= (GH1)	ENSP00000481276.1:n.11-498C=
NM_000515.4:c.291+13C= (GH1)	NP_000506.2:n.291+13C=
NM_022559.3:c.246+13C= (GH1)	NP_072053.1:n.246+13C=
NM_022560.3:c.172-80C= (GH1)	NP_072054.1:n.172-80C=
XM_011524612.1:c.291+13C= (GH1)	XP_011522914.1:n.291+13C=
NM_000515.5:c.291+13C= (GH1) MANE Select	NP_000506.2:n.291+13C=
NM_022559.4:c.246+13C= (GH1)	NP_072053.1:n.246+13C=
NM_022560.4:c.172-80C= (GH1)	NP_072054.1:n.172-80C=