Canonical Allele Identifier: CA292966968

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs749382898
• gnomAD v4: 17-63917984-C-A
• MyVariant Identifiers: chr17:g.61995344C>A (hg19) ; chr17:g.63917984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917984C>A , CM000679.2:g.63917984C>A	GRCh38
NC_000017.10:g.61995344C>A , CM000679.1:g.61995344C>A	GRCh37
NC_000017.9:g.59349076C>A	NCBI36
NG_011676.1:g.5855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+33G>T (GH1) MANE Select	ENSP00000312673.5:n.291+33G>T
ENST00000647774.1:c.569+33G>T
ENST00000323322.9:c.291+33G>T (GH1)	ENSP00000312673.5:n.291+33G>T
ENST00000342364.8:c.171+362G>T (GH1)	ENSP00000339278.4:n.171+362G>T
ENST00000351388.8:c.172-60G>T (GH1)	ENSP00000343791.4:n.172-60G>T
ENST00000392824.8:c.10+783G>T (CSHL1)	ENSP00000376569.5:n.10+783G>T
ENST00000458650.6:c.246+33G>T (GH1)	ENSP00000408486.2:n.246+33G>T
ENST00000579711.1:n.652+33G>T (GH1)
ENST00000617086.1:c.11-478G>T (GH1)	ENSP00000481276.1:n.11-478G>T
NM_000515.4:c.291+33G>T (GH1)	NP_000506.2:n.291+33G>T
NM_022559.3:c.246+33G>T (GH1)	NP_072053.1:n.246+33G>T
NM_022560.3:c.172-60G>T (GH1)	NP_072054.1:n.172-60G>T
XM_011524612.1:c.291+33G>T (GH1)	XP_011522914.1:n.291+33G>T
NM_000515.5:c.291+33G>T (GH1) MANE Select	NP_000506.2:n.291+33G>T
NM_022559.4:c.246+33G>T (GH1)	NP_072053.1:n.246+33G>T
NM_022560.4:c.172-60G>T (GH1)	NP_072054.1:n.172-60G>T