Canonical Allele Identifier: CA400612147

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs1199571485
• gnomAD v2: 17-61995277-T-A
• gnomAD v4: 17-63917917-T-A
• MyVariant Identifiers: chr17:g.61995277T>A (hg19) ; chr17:g.63917917T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917917T>A , CM000679.2:g.63917917T>A	GRCh38
NC_000017.10:g.61995277T>A , CM000679.1:g.61995277T>A	GRCh37
NC_000017.9:g.59349009T>A	NCBI36
NG_011676.1:g.5922A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.299A>T (GH1) MANE Select	ENSP00000312673.5:p.Glu100Val
ENST00000647774.1:c.577A>T
ENST00000323322.9:c.299A>T (GH1)	ENSP00000312673.5:p.Glu100Val
ENST00000342364.8:c.172-411A>T (GH1)	ENSP00000339278.4:n.172-411A>T
ENST00000351388.8:c.179A>T (GH1)	ENSP00000343791.4:p.Glu60Val
ENST00000392824.8:c.10+850A>T (CSHL1)	ENSP00000376569.5:n.10+850A>T
ENST00000458650.6:c.254A>T (GH1)	ENSP00000408486.2:p.Glu85Val
ENST00000579711.1:n.660A>T (GH1)
ENST00000617086.1:c.11-411A>T (GH1)	ENSP00000481276.1:n.11-411A>T
NM_000515.4:c.299A>T (GH1)	NP_000506.2:p.Glu100Val
NM_022559.3:c.254A>T (GH1)	NP_072053.1:p.Glu85Val
NM_022560.3:c.179A>T (GH1)	NP_072054.1:p.Glu60Val
XM_011524612.1:c.299A>T (GH1)	XP_011522914.1:p.Glu100Val
NM_000515.5:c.299A>T (GH1) MANE Select	NP_000506.2:p.Glu100Val
NM_022559.4:c.254A>T (GH1)	NP_072053.1:p.Glu85Val
NM_022560.4:c.179A>T (GH1)	NP_072054.1:p.Glu60Val