Canonical Allele Identifier: CA340844

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803523C>A , CM000669.2:g.155803523C>A	GRCh38
NC_000007.13:g.155596217C>A , CM000669.1:g.155596217C>A	GRCh37
NC_000007.12:g.155288978C>A	NCBI36
NG_007504.2:g.13751G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.766G>T MANE Select	NP_000184.1:p.Glu256Ter
ENST00000297261.7:c.766G>T MANE Select	ENSP00000297261.2:p.Glu256Ter
NM_000193.2:c.766G>T	NP_000184.1:p.Glu256Ter
NM_000193.3:c.766G>T	NP_000184.1:p.Glu256Ter
NM_001310462.1:c.301+2773G>T	NP_001297391.1:n.301+2773G>T
NM_001310462.2:c.301+2773G>T	NP_001297391.1:n.301+2773G>T
NR_132318.1:n.471+2773G>T
NR_132318.2:n.562+2773G>T
NR_132319.1:n.471+2773G>T
NR_132319.2:n.562+2773G>T
ENST00000297261.6:c.766G>T	ENSP00000297261.2:p.Glu256Ter
ENST00000430104.5:c.301+2773G>T	ENSP00000396621.1:n.301+2773G>T
ENST00000435425.1:c.301+2773G>T	ENSP00000413871.1:n.301+2773G>T
ENST00000441114.5:c.301+2773G>T	ENSP00000410546.1:n.301+2773G>T
XM_011516479.1:c.505G>T	XP_011514781.1:p.Glu169Ter
XM_011516479.2:c.505G>T	XP_011514781.1:p.Glu169Ter
XM_011516480.1:c.505G>T	XP_011514782.1:p.Glu169Ter
XM_011516480.2:c.505G>T	XP_011514782.1:p.Glu169Ter
XM_011516481.1:c.505G>T	XP_011514783.1:p.Glu169Ter
XM_011516482.1:c.427G>T	XP_011514784.1:p.Glu143Ter