Canonical Allele Identifier: CA202228

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803659G>A , CM000669.2:g.155803659G>A	GRCh38
NC_000007.13:g.155596353G>A , CM000669.1:g.155596353G>A	GRCh37
NC_000007.12:g.155289114G>A	NCBI36
NG_007504.2:g.13615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.630C>T MANE Select	ENSP00000297261.2:p.Gly210=
ENST00000297261.6:c.630C>T	ENSP00000297261.2:p.Gly210=
ENST00000430104.5:c.301+2637C>T	ENSP00000396621.1:n.301+2637C>T
ENST00000435425.1:c.301+2637C>T	ENSP00000413871.1:n.301+2637C>T
ENST00000441114.5:c.301+2637C>T	ENSP00000410546.1:n.301+2637C>T
NM_000193.2:c.630C>T	NP_000184.1:p.Gly210=
NM_000193.3:c.630C>T	NP_000184.1:p.Gly210=
NM_001310462.1:c.301+2637C>T	NP_001297391.1:n.301+2637C>T
NR_132318.1:n.471+2637C>T
NR_132319.1:n.471+2637C>T
XM_011516479.1:c.369C>T	XP_011514781.1:p.Gly123=
XM_011516480.1:c.369C>T	XP_011514782.1:p.Gly123=
XM_011516481.1:c.369C>T	XP_011514783.1:p.Gly123=
XM_011516482.1:c.291C>T	XP_011514784.1:p.Gly97=
XM_011516479.2:c.369C>T	XP_011514781.1:p.Gly123=
XM_011516480.2:c.369C>T	XP_011514782.1:p.Gly123=
NM_000193.4:c.630C>T MANE Select	NP_000184.1:p.Gly210=
NM_001310462.2:c.301+2637C>T	NP_001297391.1:n.301+2637C>T
NR_132318.2:n.562+2637C>T
NR_132319.2:n.562+2637C>T