Canonical Allele Identifier: CA8708169

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs749713941
• ExAC: 17:61995090 A / C
• gnomAD v2: 17-61995090-A-C
• MyVariant Identifiers: chr17:g.61995090A>C (hg19) ; chr17:g.63917730A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917730A>C , CM000679.2:g.63917730A>C	GRCh38
NC_000017.10:g.61995090A>C , CM000679.1:g.61995090A>C	GRCh37
NC_000017.9:g.59348822A>C	NCBI36
NG_011676.1:g.6109T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.456+30T>G (GH1) MANE Select	ENSP00000312673.5:n.456+30T>G
ENST00000647774.1:c.734+30T>G
ENST00000323322.9:c.456+30T>G (GH1)	ENSP00000312673.5:n.456+30T>G
ENST00000342364.8:c.172-224T>G (GH1)	ENSP00000339278.4:n.172-224T>G
ENST00000351388.8:c.336+30T>G (GH1)	ENSP00000343791.4:n.336+30T>G
ENST00000392824.8:c.10+1037T>G (CSHL1)	ENSP00000376569.5:n.10+1037T>G
ENST00000458650.6:c.411+30T>G (GH1)	ENSP00000408486.2:n.411+30T>G
ENST00000579711.1:n.817+30T>G (GH1)
ENST00000617086.1:c.11-224T>G (GH1)	ENSP00000481276.1:n.11-224T>G
NM_000515.4:c.456+30T>G (GH1)	NP_000506.2:n.456+30T>G
NM_022559.3:c.411+30T>G (GH1)	NP_072053.1:n.411+30T>G
NM_022560.3:c.336+30T>G (GH1)	NP_072054.1:n.336+30T>G
XM_011524612.1:c.456+30T>G (GH1)	XP_011522914.1:n.456+30T>G
XR_002958148.1:n.389-60A>C
NM_000515.5:c.456+30T>G (GH1) MANE Select	NP_000506.2:n.456+30T>G
NM_022559.4:c.411+30T>G (GH1)	NP_072053.1:n.411+30T>G
NM_022560.4:c.336+30T>G (GH1)	NP_072054.1:n.336+30T>G