Canonical Allele Identifier: CA8708180

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs369888723
• ExAC: 17:61995104 C / A
• gnomAD v2: 17-61995104-C-A
• gnomAD v4: 17-63917744-C-A
• MyVariant Identifiers: chr17:g.61995104C>A (hg19) ; chr17:g.63917744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917744C>A , CM000679.2:g.63917744C>A	GRCh38
NC_000017.10:g.61995104C>A , CM000679.1:g.61995104C>A	GRCh37
NC_000017.9:g.59348836C>A	NCBI36
NG_011676.1:g.6095G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.456+16G>T (GH1) MANE Select	ENSP00000312673.5:n.456+16G>T
ENST00000647774.1:c.734+16G>T
ENST00000323322.9:c.456+16G>T (GH1)	ENSP00000312673.5:n.456+16G>T
ENST00000342364.8:c.172-238G>T (GH1)	ENSP00000339278.4:n.172-238G>T
ENST00000351388.8:c.336+16G>T (GH1)	ENSP00000343791.4:n.336+16G>T
ENST00000392824.8:c.10+1023G>T (CSHL1)	ENSP00000376569.5:n.10+1023G>T
ENST00000458650.6:c.411+16G>T (GH1)	ENSP00000408486.2:n.411+16G>T
ENST00000579711.1:n.817+16G>T (GH1)
ENST00000617086.1:c.11-238G>T (GH1)	ENSP00000481276.1:n.11-238G>T
NM_000515.4:c.456+16G>T (GH1)	NP_000506.2:n.456+16G>T
NM_022559.3:c.411+16G>T (GH1)	NP_072053.1:n.411+16G>T
NM_022560.3:c.336+16G>T (GH1)	NP_072054.1:n.336+16G>T
XM_011524612.1:c.456+16G>T (GH1)	XP_011522914.1:n.456+16G>T
XR_002958148.1:n.389-46C>A
NM_000515.5:c.456+16G>T (GH1) MANE Select	NP_000506.2:n.456+16G>T
NM_022559.4:c.411+16G>T (GH1)	NP_072053.1:n.411+16G>T
NM_022560.4:c.336+16G>T (GH1)	NP_072054.1:n.336+16G>T