Canonical Allele Identifier: CA400611640

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917806T>C , CM000679.2:g.63917806T>C	GRCh38
NC_000017.10:g.61995166T>C , CM000679.1:g.61995166T>C	GRCh37
NC_000017.9:g.59348898T>C	NCBI36
NG_011676.1:g.6033A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000515.5:c.410A>G (GH1) MANE Select	NP_000506.2:p.Tyr137Cys
ENST00000323322.10:c.410A>G (GH1) MANE Select	ENSP00000312673.5:p.Tyr137Cys
NM_000515.4:c.410A>G (GH1)	NP_000506.2:p.Tyr137Cys
NM_022559.3:c.365A>G (GH1)	NP_072053.1:p.Tyr122Cys
NM_022559.4:c.365A>G (GH1)	NP_072053.1:p.Tyr122Cys
NM_022560.3:c.290A>G (GH1)	NP_072054.1:p.Tyr97Cys
NM_022560.4:c.290A>G (GH1)	NP_072054.1:p.Tyr97Cys
ENST00000323322.9:c.410A>G (GH1)	ENSP00000312673.5:p.Tyr137Cys
ENST00000342364.8:c.172-300A>G (GH1)	ENSP00000339278.4:n.172-300A>G
ENST00000351388.8:c.290A>G (GH1)	ENSP00000343791.4:p.Tyr97Cys
ENST00000392824.8:c.10+961A>G (CSHL1)	ENSP00000376569.5:n.10+961A>G
ENST00000458650.6:c.365A>G (GH1)	ENSP00000408486.2:p.Tyr122Cys
ENST00000579711.1:n.771A>G (GH1)
ENST00000617086.1:c.11-300A>G (GH1)	ENSP00000481276.1:n.11-300A>G
ENST00000647774.1:c.688A>G
XM_011524612.1:c.410A>G (GH1)	XP_011522914.1:p.Tyr137Cys
XR_002958148.1:n.405T>C