Canonical Allele Identifier: CA8708199

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs775540749
• ExAC: 17:61995173 T / C
• gnomAD v2: 17-61995173-T-C
• gnomAD v4: 17-63917813-T-C
• MyVariant Identifiers: chr17:g.61995173T>C (hg19) ; chr17:g.63917813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917813T>C , CM000679.2:g.63917813T>C	GRCh38
NC_000017.10:g.61995173T>C , CM000679.1:g.61995173T>C	GRCh37
NC_000017.9:g.59348905T>C	NCBI36
NG_011676.1:g.6026A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.403A>G (GH1) MANE Select	ENSP00000312673.5:p.Asn135Asp
ENST00000647774.1:c.681A>G
ENST00000323322.9:c.403A>G (GH1)	ENSP00000312673.5:p.Asn135Asp
ENST00000342364.8:c.172-307A>G (GH1)	ENSP00000339278.4:n.172-307A>G
ENST00000351388.8:c.283A>G (GH1)	ENSP00000343791.4:p.Asn95Asp
ENST00000392824.8:c.10+954A>G (CSHL1)	ENSP00000376569.5:n.10+954A>G
ENST00000458650.6:c.358A>G (GH1)	ENSP00000408486.2:p.Asn120Asp
ENST00000579711.1:n.764A>G (GH1)
ENST00000617086.1:c.11-307A>G (GH1)	ENSP00000481276.1:n.11-307A>G
NM_000515.4:c.403A>G (GH1)	NP_000506.2:p.Asn135Asp
NM_022559.3:c.358A>G (GH1)	NP_072053.1:p.Asn120Asp
NM_022560.3:c.283A>G (GH1)	NP_072054.1:p.Asn95Asp
XM_011524612.1:c.403A>G (GH1)	XP_011522914.1:p.Asn135Asp
XR_002958148.1:n.412T>C
NM_000515.5:c.403A>G (GH1) MANE Select	NP_000506.2:p.Asn135Asp
NM_022559.4:c.358A>G (GH1)	NP_072053.1:p.Asn120Asp
NM_022560.4:c.283A>G (GH1)	NP_072054.1:p.Asn95Asp