Canonical Allele Identifier: CA1754773615

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806527T= , CM000669.2:g.155806527T=	GRCh38
NC_000007.13:g.155599221T= , CM000669.1:g.155599221T=	GRCh37
NC_000007.12:g.155291982T=	NCBI36
NG_007504.2:g.10747A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.331A= MANE Select	NP_000184.1:p.Ile111=
ENST00000297261.7:c.331A= MANE Select	ENSP00000297261.2:p.Ile111=
NM_000193.2:c.331A=	NP_000184.1:p.Ile111=
NM_000193.3:c.331A=	NP_000184.1:p.Ile111=
NM_001310462.1:c.70A=	NP_001297391.1:p.Ile24=
NM_001310462.2:c.70A=	NP_001297391.1:p.Ile24=
NR_132318.1:n.240A=
NR_132318.2:n.331A=
NR_132319.1:n.240A=
NR_132319.2:n.331A=
ENST00000297261.6:c.331A=	ENSP00000297261.2:p.Ile111=
ENST00000430104.5:c.70A=	ENSP00000396621.1:p.Ile24=
ENST00000435425.1:c.70A=	ENSP00000413871.1:p.Ile24=
ENST00000441114.5:c.70A=	ENSP00000410546.1:p.Ile24=
XM_011516479.1:c.70A=	XP_011514781.1:p.Ile24=
XM_011516479.2:c.70A=	XP_011514781.1:p.Ile24=
XM_011516480.1:c.70A=	XP_011514782.1:p.Ile24=
XM_011516480.2:c.70A=	XP_011514782.1:p.Ile24=
XM_011516481.1:c.70A=	XP_011514783.1:p.Ile24=
XM_011516482.1:c.-9A=	XP_011514784.1:n.-9A=