Canonical Allele Identifier: CA8708272

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs374067833
• ExAC: 17:61995367 A / T
• gnomAD v2: 17-61995367-A-T
• gnomAD v3: 17-63918007-A-T
• gnomAD v4: 17-63918007-A-T
• MyVariant Identifiers: chr17:g.61995367A>T (hg19) ; chr17:g.63918007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918007A>T , CM000679.2:g.63918007A>T	GRCh38
NC_000017.10:g.61995367A>T , CM000679.1:g.61995367A>T	GRCh37
NC_000017.9:g.59349099A>T	NCBI36
NG_011676.1:g.5832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+10T>A (GH1) MANE Select	ENSP00000312673.5:n.291+10T>A
ENST00000647774.1:c.569+10T>A
ENST00000323322.9:c.291+10T>A (GH1)	ENSP00000312673.5:n.291+10T>A
ENST00000342364.8:c.171+339T>A (GH1)	ENSP00000339278.4:n.171+339T>A
ENST00000351388.8:c.172-83T>A (GH1)	ENSP00000343791.4:n.172-83T>A
ENST00000392824.8:c.10+760T>A (CSHL1)	ENSP00000376569.5:n.10+760T>A
ENST00000458650.6:c.246+10T>A (GH1)	ENSP00000408486.2:n.246+10T>A
ENST00000579711.1:n.652+10T>A (GH1)
ENST00000617086.1:c.11-501T>A (GH1)	ENSP00000481276.1:n.11-501T>A
NM_000515.4:c.291+10T>A (GH1)	NP_000506.2:n.291+10T>A
NM_022559.3:c.246+10T>A (GH1)	NP_072053.1:n.246+10T>A
NM_022560.3:c.172-83T>A (GH1)	NP_072054.1:n.172-83T>A
XM_011524612.1:c.291+10T>A (GH1)	XP_011522914.1:n.291+10T>A
NM_000515.5:c.291+10T>A (GH1) MANE Select	NP_000506.2:n.291+10T>A
NM_022559.4:c.246+10T>A (GH1)	NP_072053.1:n.246+10T>A
NM_022560.4:c.172-83T>A (GH1)	NP_072054.1:n.172-83T>A