Canonical Allele Identifier: CA126113

Linked Data

ClinVar Variation Id: 15969
ClinVar RCV Id: RCV000017339
dbSNP Id: rs137853220
COSMIC: COSM215700

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63917909G>A , CM000679.2:g.63917909G>A GRCh38
NC_000017.10:g.61995269G>A , CM000679.1:g.61995269G>A GRCh37
NC_000017.9:g.59349001G>A NCBI36
NG_011676.1:g.5930C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000323322.10:c.307C>T (GH1) MANE Select ENSP00000312673.5:p.Arg103Cys
ENST00000647774.1:c.585C>T
ENST00000323322.9:c.307C>T (GH1) ENSP00000312673.5:p.Arg103Cys
ENST00000342364.8:c.172-403C>T (GH1) ENSP00000339278.4:n.172-403C>T
ENST00000351388.8:c.187C>T (GH1) ENSP00000343791.4:p.Arg63Cys
ENST00000392824.8:c.10+858C>T (CSHL1) ENSP00000376569.5:n.10+858C>T
ENST00000458650.6:c.262C>T (GH1) ENSP00000408486.2:p.Arg88Cys
ENST00000579711.1:n.668C>T (GH1)
ENST00000617086.1:c.11-403C>T (GH1) ENSP00000481276.1:n.11-403C>T
NM_000515.4:c.307C>T (GH1) NP_000506.2:p.Arg103Cys
NM_022559.3:c.262C>T (GH1) NP_072053.1:p.Arg88Cys
NM_022560.3:c.187C>T (GH1) NP_072054.1:p.Arg63Cys
XM_011524612.1:c.307C>T (GH1) XP_011522914.1:p.Arg103Cys
NM_000515.5:c.307C>T (GH1) MANE Select NP_000506.2:p.Arg103Cys
NM_022559.4:c.262C>T (GH1) NP_072053.1:p.Arg88Cys
NM_022560.4:c.187C>T (GH1) NP_072054.1:p.Arg63Cys