Canonical Allele Identifier: CA8708128

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917428C>G , CM000679.2:g.63917428C>G	GRCh38
NC_000017.10:g.61994788C>G , CM000679.1:g.61994788C>G	GRCh37
NC_000017.9:g.59348520C>G	NCBI36
NG_011676.1:g.6411G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000515.5:c.535G>C (GH1) MANE Select	NP_000506.2:p.Asp179His
ENST00000323322.10:c.535G>C (GH1) MANE Select	ENSP00000312673.5:p.Asp179His
NM_000515.4:c.535G>C (GH1)	NP_000506.2:p.Asp179His
NM_022559.3:c.490G>C (GH1)	NP_072053.1:p.Asp164His
NM_022559.4:c.490G>C (GH1)	NP_072053.1:p.Asp164His
NM_022560.3:c.415G>C (GH1)	NP_072054.1:p.Asp139His
NM_022560.4:c.415G>C (GH1)	NP_072054.1:p.Asp139His
ENST00000323322.9:c.535G>C (GH1)	ENSP00000312673.5:p.Asp179His
ENST00000342364.8:c.250G>C (GH1)	ENSP00000339278.4:p.Asp84His
ENST00000351388.8:c.415G>C (GH1)	ENSP00000343791.4:p.Asp139His
ENST00000392824.8:c.10+1339G>C (CSHL1)	ENSP00000376569.5:n.10+1339G>C
ENST00000458650.6:c.490G>C (GH1)	ENSP00000408486.2:p.Asp164His
ENST00000617086.1:c.89G>C (GH1)	ENSP00000481276.1:p.Arg30Pro
ENST00000647774.1:c.813G>C
XM_011524612.1:c.535G>C (GH1)	XP_011522914.1:p.Asp179His
XR_002958148.1:n.341-169C>G