Canonical Allele Identifier: CA400610942

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917460G>C , CM000679.2:g.63917460G>C	GRCh38
NC_000017.10:g.61994820G>C , CM000679.1:g.61994820G>C	GRCh37
NC_000017.9:g.59348552G>C	NCBI36
NG_011676.1:g.6379C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000515.5:c.503C>G (GH1) MANE Select	NP_000506.2:p.Thr168Ser
ENST00000323322.10:c.503C>G (GH1) MANE Select	ENSP00000312673.5:p.Thr168Ser
NM_000515.4:c.503C>G (GH1)	NP_000506.2:p.Thr168Ser
NM_022559.3:c.458C>G (GH1)	NP_072053.1:p.Thr153Ser
NM_022559.4:c.458C>G (GH1)	NP_072053.1:p.Thr153Ser
NM_022560.3:c.383C>G (GH1)	NP_072054.1:p.Thr128Ser
NM_022560.4:c.383C>G (GH1)	NP_072054.1:p.Thr128Ser
ENST00000323322.9:c.503C>G (GH1)	ENSP00000312673.5:p.Thr168Ser
ENST00000342364.8:c.218C>G (GH1)	ENSP00000339278.4:p.Thr73Ser
ENST00000351388.8:c.383C>G (GH1)	ENSP00000343791.4:p.Thr128Ser
ENST00000392824.8:c.10+1307C>G (CSHL1)	ENSP00000376569.5:n.10+1307C>G
ENST00000458650.6:c.458C>G (GH1)	ENSP00000408486.2:p.Thr153Ser
ENST00000617086.1:c.57C>G (GH1)	ENSP00000481276.1:p.Asp19Glu
ENST00000647774.1:c.781C>G
XM_011524612.1:c.503C>G (GH1)	XP_011522914.1:p.Thr168Ser
XR_002958148.1:n.341-137G>C