Canonical Allele Identifier: CA400611173

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917490C>G , CM000679.2:g.63917490C>G	GRCh38
NC_000017.10:g.61994850C>G , CM000679.1:g.61994850C>G	GRCh37
NC_000017.9:g.59348582C>G	NCBI36
NG_011676.1:g.6349G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000515.5:c.473G>C (GH1) MANE Select	NP_000506.2:p.Ser158Thr
ENST00000323322.10:c.473G>C (GH1) MANE Select	ENSP00000312673.5:p.Ser158Thr
NM_000515.4:c.473G>C (GH1)	NP_000506.2:p.Ser158Thr
NM_022559.3:c.428G>C (GH1)	NP_072053.1:p.Ser143Thr
NM_022559.4:c.428G>C (GH1)	NP_072053.1:p.Ser143Thr
NM_022560.3:c.353G>C (GH1)	NP_072054.1:p.Ser118Thr
NM_022560.4:c.353G>C (GH1)	NP_072054.1:p.Ser118Thr
ENST00000323322.9:c.473G>C (GH1)	ENSP00000312673.5:p.Ser158Thr
ENST00000342364.8:c.188G>C (GH1)	ENSP00000339278.4:p.Ser63Thr
ENST00000351388.8:c.353G>C (GH1)	ENSP00000343791.4:p.Ser118Thr
ENST00000392824.8:c.10+1277G>C (CSHL1)	ENSP00000376569.5:n.10+1277G>C
ENST00000458650.6:c.428G>C (GH1)	ENSP00000408486.2:p.Ser143Thr
ENST00000617086.1:c.27G>C (GH1)	ENSP00000481276.1:p.Gln9His
ENST00000647774.1:c.751G>C
XM_011524612.1:c.473G>C (GH1)	XP_011522914.1:p.Ser158Thr
XR_002958148.1:n.341-107C>G