Canonical Allele Identifier: CA3155052958

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803120A= , CM000669.2:g.155803120A=	GRCh38
NC_000007.13:g.155595814A= , CM000669.1:g.155595814A=	GRCh37
NC_000007.12:g.155288575A=	NCBI36
NG_007504.2:g.14154T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.1169T= MANE Select	NP_000184.1:p.Leu390=
ENST00000297261.7:c.1169T= MANE Select	ENSP00000297261.2:p.Leu390=
NM_000193.2:c.1169T=	NP_000184.1:p.Leu390=
NM_000193.3:c.1169T=	NP_000184.1:p.Leu390=
NM_001310462.1:c.302-2875T=	NP_001297391.1:n.302-2875T=
NM_001310462.2:c.302-2875T=	NP_001297391.1:n.302-2875T=
NR_132318.1:n.472-2453T=
NR_132318.2:n.563-2453T=
NR_132319.1:n.472-2523T=
NR_132319.2:n.563-2523T=
ENST00000297261.6:c.1169T=	ENSP00000297261.2:p.Leu390=
ENST00000430104.5:c.302-2875T=	ENSP00000396621.1:n.302-2875T=
ENST00000435425.1:c.302-2523T=	ENSP00000413871.1:n.302-2523T=
ENST00000441114.5:c.302-2453T=	ENSP00000410546.1:n.302-2453T=
XM_011516479.1:c.908T=	XP_011514781.1:p.Leu303=
XM_011516479.2:c.908T=	XP_011514781.1:p.Leu303=
XM_011516480.1:c.908T=	XP_011514782.1:p.Leu303=
XM_011516480.2:c.908T=	XP_011514782.1:p.Leu303=
XM_011516481.1:c.908T=	XP_011514783.1:p.Leu303=
XM_011516482.1:c.830T=	XP_011514784.1:p.Leu277=