Canonical Allele Identifier: CA400611175

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63917490C>A , CM000679.2:g.63917490C>A GRCh38
NC_000017.10:g.61994850C>A , CM000679.1:g.61994850C>A GRCh37
NC_000017.9:g.59348582C>A NCBI36
NG_011676.1:g.6349G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000515.5:c.473G>T (GH1) MANE Select NP_000506.2:p.Ser158Ile
ENST00000323322.10:c.473G>T (GH1) MANE Select ENSP00000312673.5:p.Ser158Ile
NM_000515.4:c.473G>T (GH1) NP_000506.2:p.Ser158Ile
NM_022559.3:c.428G>T (GH1) NP_072053.1:p.Ser143Ile
NM_022559.4:c.428G>T (GH1) NP_072053.1:p.Ser143Ile
NM_022560.3:c.353G>T (GH1) NP_072054.1:p.Ser118Ile
NM_022560.4:c.353G>T (GH1) NP_072054.1:p.Ser118Ile
ENST00000323322.9:c.473G>T (GH1) ENSP00000312673.5:p.Ser158Ile
ENST00000342364.8:c.188G>T (GH1) ENSP00000339278.4:p.Ser63Ile
ENST00000351388.8:c.353G>T (GH1) ENSP00000343791.4:p.Ser118Ile
ENST00000392824.8:c.10+1277G>T (CSHL1) ENSP00000376569.5:n.10+1277G>T
ENST00000458650.6:c.428G>T (GH1) ENSP00000408486.2:p.Ser143Ile
ENST00000617086.1:c.27G>T (GH1) ENSP00000481276.1:p.Gln9His
ENST00000647774.1:c.751G>T
XM_011524612.1:c.473G>T (GH1) XP_011522914.1:p.Ser158Ile
XR_002958148.1:n.341-107C>A