Canonical Allele Identifier: CA126111

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918458C>T , CM000679.2:g.63918458C>T	GRCh38
NC_000017.10:g.61995818C>T , CM000679.1:g.61995818C>T	GRCh37
NC_000017.9:g.59349550C>T	NCBI36
NG_011676.1:g.5381G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000515.5:c.59G>A (GH1) MANE Select	NP_000506.2:p.Trp20Ter
ENST00000323322.10:c.59G>A (GH1) MANE Select	ENSP00000312673.5:p.Trp20Ter
NM_000515.4:c.59G>A (GH1)	NP_000506.2:p.Trp20Ter
NM_022559.3:c.59G>A (GH1)	NP_072053.1:p.Trp20Ter
NM_022559.4:c.59G>A (GH1)	NP_072053.1:p.Trp20Ter
NM_022560.3:c.59G>A (GH1)	NP_072054.1:p.Trp20Ter
NM_022560.4:c.59G>A (GH1)	NP_072054.1:p.Trp20Ter
ENST00000323322.9:c.59G>A (GH1)	ENSP00000312673.5:p.Trp20Ter
ENST00000342364.8:c.59G>A (GH1)	ENSP00000339278.4:p.Trp20Ter
ENST00000351388.8:c.59G>A (GH1)	ENSP00000343791.4:p.Trp20Ter
ENST00000392824.8:c.10+309G>A (CSHL1)	ENSP00000376569.5:n.10+309G>A
ENST00000458650.6:c.59G>A (GH1)	ENSP00000408486.2:p.Trp20Ter
ENST00000579711.1:n.211G>A (GH1)
ENST00000617086.1:c.10+309G>A (GH1)	ENSP00000481276.1:n.10+309G>A
ENST00000647774.1:c.337G>A
XM_011524612.1:c.59G>A (GH1)	XP_011522914.1:p.Trp20Ter