Canonical Allele Identifier: CA400612162

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs1349031762
• gnomAD v3: 17-63917920-A-T
• gnomAD v4: 17-63917920-A-T
• MyVariant Identifiers: chr17:g.61995280A>T (hg19) ; chr17:g.63917920A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917920A>T , CM000679.2:g.63917920A>T	GRCh38
NC_000017.10:g.61995280A>T , CM000679.1:g.61995280A>T	GRCh37
NC_000017.9:g.59349012A>T	NCBI36
NG_011676.1:g.5919T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.296T>A (GH1) MANE Select	ENSP00000312673.5:p.Leu99Gln
ENST00000647774.1:c.574T>A
ENST00000323322.9:c.296T>A (GH1)	ENSP00000312673.5:p.Leu99Gln
ENST00000342364.8:c.172-414T>A (GH1)	ENSP00000339278.4:n.172-414T>A
ENST00000351388.8:c.176T>A (GH1)	ENSP00000343791.4:p.Leu59Gln
ENST00000392824.8:c.10+847T>A (CSHL1)	ENSP00000376569.5:n.10+847T>A
ENST00000458650.6:c.251T>A (GH1)	ENSP00000408486.2:p.Leu84Gln
ENST00000579711.1:n.657T>A (GH1)
ENST00000617086.1:c.11-414T>A (GH1)	ENSP00000481276.1:n.11-414T>A
NM_000515.4:c.296T>A (GH1)	NP_000506.2:p.Leu99Gln
NM_022559.3:c.251T>A (GH1)	NP_072053.1:p.Leu84Gln
NM_022560.3:c.176T>A (GH1)	NP_072054.1:p.Leu59Gln
XM_011524612.1:c.296T>A (GH1)	XP_011522914.1:p.Leu99Gln
NM_000515.5:c.296T>A (GH1) MANE Select	NP_000506.2:p.Leu99Gln
NM_022559.4:c.251T>A (GH1)	NP_072053.1:p.Leu84Gln
NM_022560.4:c.176T>A (GH1)	NP_072054.1:p.Leu59Gln