Canonical Allele Identifier: CA2270149527

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917989C= , CM000679.2:g.63917989C=	GRCh38
NC_000017.10:g.61995349C= , CM000679.1:g.61995349C=	GRCh37
NC_000017.9:g.59349081C=	NCBI36
NG_011676.1:g.5850G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+28G= (GH1) MANE Select	ENSP00000312673.5:n.291+28G=
ENST00000647774.1:c.569+28G=
ENST00000323322.9:c.291+28G= (GH1)	ENSP00000312673.5:n.291+28G=
ENST00000342364.8:c.171+357G= (GH1)	ENSP00000339278.4:n.171+357G=
ENST00000351388.8:c.172-65G= (GH1)	ENSP00000343791.4:n.172-65G=
ENST00000392824.8:c.10+778G= (CSHL1)	ENSP00000376569.5:n.10+778G=
ENST00000458650.6:c.246+28G= (GH1)	ENSP00000408486.2:n.246+28G=
ENST00000579711.1:n.652+28G= (GH1)
ENST00000617086.1:c.11-483G= (GH1)	ENSP00000481276.1:n.11-483G=
NM_000515.4:c.291+28G= (GH1)	NP_000506.2:n.291+28G=
NM_022559.3:c.246+28G= (GH1)	NP_072053.1:n.246+28G=
NM_022560.3:c.172-65G= (GH1)	NP_072054.1:n.172-65G=
XM_011524612.1:c.291+28G= (GH1)	XP_011522914.1:n.291+28G=
NM_000515.5:c.291+28G= (GH1) MANE Select	NP_000506.2:n.291+28G=
NM_022559.4:c.246+28G= (GH1)	NP_072053.1:n.246+28G=
NM_022560.4:c.172-65G= (GH1)	NP_072054.1:n.172-65G=