Canonical Allele Identifier: CA340832

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806509A>G , CM000669.2:g.155806509A>G	GRCh38
NC_000007.13:g.155599203A>G , CM000669.1:g.155599203A>G	GRCh37
NC_000007.12:g.155291964A>G	NCBI36
NG_007504.2:g.10765T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.349T>C MANE Select	NP_000184.1:p.Trp117Arg
ENST00000297261.7:c.349T>C MANE Select	ENSP00000297261.2:p.Trp117Arg
NM_000193.2:c.349T>C	NP_000184.1:p.Trp117Arg
NM_000193.3:c.349T>C	NP_000184.1:p.Trp117Arg
NM_001310462.1:c.88T>C	NP_001297391.1:p.Trp30Arg
NM_001310462.2:c.88T>C	NP_001297391.1:p.Trp30Arg
NR_132318.1:n.258T>C
NR_132318.2:n.349T>C
NR_132319.1:n.258T>C
NR_132319.2:n.349T>C
ENST00000297261.6:c.349T>C	ENSP00000297261.2:p.Trp117Arg
ENST00000430104.5:c.88T>C	ENSP00000396621.1:p.Trp30Arg
ENST00000435425.1:c.88T>C	ENSP00000413871.1:p.Trp30Arg
ENST00000441114.5:c.88T>C	ENSP00000410546.1:p.Trp30Arg
XM_011516479.1:c.88T>C	XP_011514781.1:p.Trp30Arg
XM_011516479.2:c.88T>C	XP_011514781.1:p.Trp30Arg
XM_011516480.1:c.88T>C	XP_011514782.1:p.Trp30Arg
XM_011516480.2:c.88T>C	XP_011514782.1:p.Trp30Arg
XM_011516481.1:c.88T>C	XP_011514783.1:p.Trp30Arg
XM_011516482.1:c.10T>C	XP_011514784.1:p.Trp4Arg