Canonical Allele Identifier: CA1754767804

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803142C= , CM000669.2:g.155803142C=	GRCh38
NC_000007.13:g.155595836C= , CM000669.1:g.155595836C=	GRCh37
NC_000007.12:g.155288597C=	NCBI36
NG_007504.2:g.14132G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.1147G= MANE Select	NP_000184.1:p.Ala383=
ENST00000297261.7:c.1147G= MANE Select	ENSP00000297261.2:p.Ala383=
NM_000193.2:c.1147G=	NP_000184.1:p.Ala383=
NM_000193.3:c.1147G=	NP_000184.1:p.Ala383=
NM_001310462.1:c.302-2897G=	NP_001297391.1:n.302-2897G=
NM_001310462.2:c.302-2897G=	NP_001297391.1:n.302-2897G=
NR_132318.1:n.472-2475G=
NR_132318.2:n.563-2475G=
NR_132319.1:n.472-2545G=
NR_132319.2:n.563-2545G=
ENST00000297261.6:c.1147G=	ENSP00000297261.2:p.Ala383=
ENST00000430104.5:c.302-2897G=	ENSP00000396621.1:n.302-2897G=
ENST00000435425.1:c.302-2545G=	ENSP00000413871.1:n.302-2545G=
ENST00000441114.5:c.302-2475G=	ENSP00000410546.1:n.302-2475G=
XM_011516479.1:c.886G=	XP_011514781.1:p.Ala296=
XM_011516479.2:c.886G=	XP_011514781.1:p.Ala296=
XM_011516480.1:c.886G=	XP_011514782.1:p.Ala296=
XM_011516480.2:c.886G=	XP_011514782.1:p.Ala296=
XM_011516481.1:c.886G=	XP_011514783.1:p.Ala296=
XM_011516482.1:c.808G=	XP_011514784.1:p.Ala270=