Canonical Allele Identifier: CA501347763

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs763501141
• MyVariant Identifiers: chr17:g.61995180A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917820A>G , CM000679.2:g.63917820A>G	GRCh38
NC_000017.10:g.61995180A>G , CM000679.1:g.61995180A>G	GRCh37
NC_000017.9:g.59348912A>G	NCBI36
NG_011676.1:g.6019T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.396T>C (GH1) MANE Select	ENSP00000312673.5:p.Ser132=
ENST00000647774.1:c.674T>C
ENST00000323322.9:c.396T>C (GH1)	ENSP00000312673.5:p.Ser132=
ENST00000342364.8:c.172-314T>C (GH1)	ENSP00000339278.4:n.172-314T>C
ENST00000351388.8:c.276T>C (GH1)	ENSP00000343791.4:p.Ser92=
ENST00000392824.8:c.10+947T>C (CSHL1)	ENSP00000376569.5:n.10+947T>C
ENST00000458650.6:c.351T>C (GH1)	ENSP00000408486.2:p.Ser117=
ENST00000579711.1:n.757T>C (GH1)
ENST00000617086.1:c.11-314T>C (GH1)	ENSP00000481276.1:n.11-314T>C
NM_000515.4:c.396T>C (GH1)	NP_000506.2:p.Ser132=
NM_022559.3:c.351T>C (GH1)	NP_072053.1:p.Ser117=
NM_022560.3:c.276T>C (GH1)	NP_072054.1:p.Ser92=
XM_011524612.1:c.396T>C (GH1)	XP_011522914.1:p.Ser132=
XR_002958148.1:n.419A>G
NM_000515.5:c.396T>C (GH1) MANE Select	NP_000506.2:p.Ser132=
NM_022559.4:c.351T>C (GH1)	NP_072053.1:p.Ser117=
NM_022560.4:c.276T>C (GH1)	NP_072054.1:p.Ser92=