Canonical Allele Identifier: CA292966775

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs774639466
• gnomAD v4: 17-63917668-T-C
• MyVariant Identifiers: chr17:g.61995028T>C (hg19) ; chr17:g.63917668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917668T>C , CM000679.2:g.63917668T>C	GRCh38
NC_000017.10:g.61995028T>C , CM000679.1:g.61995028T>C	GRCh37
NC_000017.9:g.59348760T>C	NCBI36
NG_011676.1:g.6171A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.456+92A>G (GH1) MANE Select	ENSP00000312673.5:n.456+92A>G
ENST00000647774.1:c.734+92A>G
ENST00000323322.9:c.456+92A>G (GH1)	ENSP00000312673.5:n.456+92A>G
ENST00000342364.8:c.172-162A>G (GH1)	ENSP00000339278.4:n.172-162A>G
ENST00000351388.8:c.336+92A>G (GH1)	ENSP00000343791.4:n.336+92A>G
ENST00000392824.8:c.10+1099A>G (CSHL1)	ENSP00000376569.5:n.10+1099A>G
ENST00000458650.6:c.411+92A>G (GH1)	ENSP00000408486.2:n.411+92A>G
ENST00000579711.1:n.817+92A>G (GH1)
ENST00000617086.1:c.11-162A>G (GH1)	ENSP00000481276.1:n.11-162A>G
NM_000515.4:c.456+92A>G (GH1)	NP_000506.2:n.456+92A>G
NM_022559.3:c.411+92A>G (GH1)	NP_072053.1:n.411+92A>G
NM_022560.3:c.336+92A>G (GH1)	NP_072054.1:n.336+92A>G
XM_011524612.1:c.456+92A>G (GH1)	XP_011522914.1:n.456+92A>G
XR_002958148.1:n.388+24T>C
NM_000515.5:c.456+92A>G (GH1) MANE Select	NP_000506.2:n.456+92A>G
NM_022559.4:c.411+92A>G (GH1)	NP_072053.1:n.411+92A>G
NM_022560.4:c.336+92A>G (GH1)	NP_072054.1:n.336+92A>G