Canonical Allele Identifier: CA201550

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 195080
• ClinVar RCV Id: RCV000175615 ; RCV000872441 ; RCV000990051 ; RCV001122917 ; RCV003927607
• dbSNP Id: rs61735357
• ExAC: 17:61995725 A / T
• gnomAD v2: 17-61995725-A-T
• gnomAD v3: 17-63918365-A-T
• gnomAD v4: 17-63918365-A-T
• MyVariant Identifiers: chr17:g.61995725A>T (hg19) ; chr17:g.63918365A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918365A>T , CM000679.2:g.63918365A>T	GRCh38
NC_000017.10:g.61995725A>T , CM000679.1:g.61995725A>T	GRCh37
NC_000017.9:g.59349457A>T	NCBI36
NG_011676.1:g.5474T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.152T>A (GH1) MANE Select	ENSP00000312673.5:p.Phe51Tyr
ENST00000647774.1:c.430T>A
ENST00000323322.9:c.152T>A (GH1)	ENSP00000312673.5:p.Phe51Tyr
ENST00000342364.8:c.152T>A (GH1)	ENSP00000339278.4:p.Phe51Tyr
ENST00000351388.8:c.152T>A (GH1)	ENSP00000343791.4:p.Phe51Tyr
ENST00000392824.8:c.10+402T>A (CSHL1)	ENSP00000376569.5:n.10+402T>A
ENST00000458650.6:c.152T>A (GH1)	ENSP00000408486.2:p.Phe51Tyr
ENST00000579711.1:n.304T>A (GH1)
ENST00000617086.1:c.10+402T>A (GH1)	ENSP00000481276.1:n.10+402T>A
NM_000515.4:c.152T>A (GH1)	NP_000506.2:p.Phe51Tyr
NM_022559.3:c.152T>A (GH1)	NP_072053.1:p.Phe51Tyr
NM_022560.3:c.152T>A (GH1)	NP_072054.1:p.Phe51Tyr
XM_011524612.1:c.152T>A (GH1)	XP_011522914.1:p.Phe51Tyr
NM_000515.5:c.152T>A (GH1) MANE Select	NP_000506.2:p.Phe51Tyr
NM_022559.4:c.152T>A (GH1)	NP_072053.1:p.Phe51Tyr
NM_022560.4:c.152T>A (GH1)	NP_072054.1:p.Phe51Tyr