Canonical Allele Identifier: CA400610860

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917446C>G , CM000679.2:g.63917446C>G	GRCh38
NC_000017.10:g.61994806C>G , CM000679.1:g.61994806C>G	GRCh37
NC_000017.9:g.59348538C>G	NCBI36
NG_011676.1:g.6393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.517G>C (GH1) MANE Select	ENSP00000312673.5:p.Asp173His
ENST00000647774.1:c.795G>C
ENST00000323322.9:c.517G>C (GH1)	ENSP00000312673.5:p.Asp173His
ENST00000342364.8:c.232G>C (GH1)	ENSP00000339278.4:p.Asp78His
ENST00000351388.8:c.397G>C (GH1)	ENSP00000343791.4:p.Asp133His
ENST00000392824.8:c.10+1321G>C (CSHL1)	ENSP00000376569.5:n.10+1321G>C
ENST00000458650.6:c.472G>C (GH1)	ENSP00000408486.2:p.Asp158His
ENST00000617086.1:c.71G>C (GH1)	ENSP00000481276.1:p.Arg24Pro
NM_000515.4:c.517G>C (GH1)	NP_000506.2:p.Asp173His
NM_022559.3:c.472G>C (GH1)	NP_072053.1:p.Asp158His
NM_022560.3:c.397G>C (GH1)	NP_072054.1:p.Asp133His
XM_011524612.1:c.517G>C (GH1)	XP_011522914.1:p.Asp173His
XR_002958148.1:n.341-151C>G
NM_000515.5:c.517G>C (GH1) MANE Select	NP_000506.2:p.Asp173His
NM_022559.4:c.472G>C (GH1)	NP_072053.1:p.Asp158His
NM_022560.4:c.397G>C (GH1)	NP_072054.1:p.Asp133His