Canonical Allele Identifier: CA370146729

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803697A>G , CM000669.2:g.155803697A>G	GRCh38
NC_000007.13:g.155596391A>G , CM000669.1:g.155596391A>G	GRCh37
NC_000007.12:g.155289152A>G	NCBI36
NG_007504.2:g.13577T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.592T>C MANE Select	NP_000184.1:p.Cys198Arg
ENST00000297261.7:c.592T>C MANE Select	ENSP00000297261.2:p.Cys198Arg
NM_000193.2:c.592T>C	NP_000184.1:p.Cys198Arg
NM_000193.3:c.592T>C	NP_000184.1:p.Cys198Arg
NM_001310462.1:c.301+2599T>C	NP_001297391.1:n.301+2599T>C
NM_001310462.2:c.301+2599T>C	NP_001297391.1:n.301+2599T>C
NR_132318.1:n.471+2599T>C
NR_132318.2:n.562+2599T>C
NR_132319.1:n.471+2599T>C
NR_132319.2:n.562+2599T>C
ENST00000297261.6:c.592T>C	ENSP00000297261.2:p.Cys198Arg
ENST00000430104.5:c.301+2599T>C	ENSP00000396621.1:n.301+2599T>C
ENST00000435425.1:c.301+2599T>C	ENSP00000413871.1:n.301+2599T>C
ENST00000441114.5:c.301+2599T>C	ENSP00000410546.1:n.301+2599T>C
XM_011516479.1:c.331T>C	XP_011514781.1:p.Cys111Arg
XM_011516479.2:c.331T>C	XP_011514781.1:p.Cys111Arg
XM_011516480.1:c.331T>C	XP_011514782.1:p.Cys111Arg
XM_011516480.2:c.331T>C	XP_011514782.1:p.Cys111Arg
XM_011516481.1:c.331T>C	XP_011514783.1:p.Cys111Arg
XM_011516482.1:c.253T>C	XP_011514784.1:p.Cys85Arg