Canonical Allele Identifier: CA8708245

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs753248163
• ExAC: 17:61995309 C / G
• gnomAD v2: 17-61995309-C-G
• gnomAD v4: 17-63917949-C-G
• MyVariant Identifiers: chr17:g.61995309C>G (hg19) ; chr17:g.63917949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917949C>G , CM000679.2:g.63917949C>G	GRCh38
NC_000017.10:g.61995309C>G , CM000679.1:g.61995309C>G	GRCh37
NC_000017.9:g.59349041C>G	NCBI36
NG_011676.1:g.5890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.292-25G>C (GH1) MANE Select	ENSP00000312673.5:n.292-25G>C
ENST00000647774.1:c.570-25G>C
ENST00000323322.9:c.292-25G>C (GH1)	ENSP00000312673.5:n.292-25G>C
ENST00000342364.8:c.171+397G>C (GH1)	ENSP00000339278.4:n.171+397G>C
ENST00000351388.8:c.172-25G>C (GH1)	ENSP00000343791.4:n.172-25G>C
ENST00000392824.8:c.10+818G>C (CSHL1)	ENSP00000376569.5:n.10+818G>C
ENST00000458650.6:c.247-25G>C (GH1)	ENSP00000408486.2:n.247-25G>C
ENST00000579711.1:n.653-25G>C (GH1)
ENST00000617086.1:c.11-443G>C (GH1)	ENSP00000481276.1:n.11-443G>C
NM_000515.4:c.292-25G>C (GH1)	NP_000506.2:n.292-25G>C
NM_022559.3:c.247-25G>C (GH1)	NP_072053.1:n.247-25G>C
NM_022560.3:c.172-25G>C (GH1)	NP_072054.1:n.172-25G>C
XM_011524612.1:c.292-25G>C (GH1)	XP_011522914.1:n.292-25G>C
NM_000515.5:c.292-25G>C (GH1) MANE Select	NP_000506.2:n.292-25G>C
NM_022559.4:c.247-25G>C (GH1)	NP_072053.1:n.247-25G>C
NM_022560.4:c.172-25G>C (GH1)	NP_072054.1:n.172-25G>C