Canonical Allele Identifier: CA4586939

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803439C>T , CM000669.2:g.155803439C>T	GRCh38
NC_000007.13:g.155596133C>T , CM000669.1:g.155596133C>T	GRCh37
NC_000007.12:g.155288894C>T	NCBI36
NG_007504.2:g.13835G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.850G>A MANE Select	NP_000184.1:p.Glu284Lys
ENST00000297261.7:c.850G>A MANE Select	ENSP00000297261.2:p.Glu284Lys
NM_000193.2:c.850G>A	NP_000184.1:p.Glu284Lys
NM_000193.3:c.850G>A	NP_000184.1:p.Glu284Lys
NM_001310462.1:c.301+2857G>A	NP_001297391.1:n.301+2857G>A
NM_001310462.2:c.301+2857G>A	NP_001297391.1:n.301+2857G>A
NR_132318.1:n.472-2772G>A
NR_132318.2:n.563-2772G>A
NR_132319.1:n.472-2842G>A
NR_132319.2:n.563-2842G>A
ENST00000297261.6:c.850G>A	ENSP00000297261.2:p.Glu284Lys
ENST00000430104.5:c.301+2857G>A	ENSP00000396621.1:n.301+2857G>A
ENST00000435425.1:c.302-2842G>A	ENSP00000413871.1:n.302-2842G>A
ENST00000441114.5:c.302-2772G>A	ENSP00000410546.1:n.302-2772G>A
XM_011516479.1:c.589G>A	XP_011514781.1:p.Glu197Lys
XM_011516479.2:c.589G>A	XP_011514781.1:p.Glu197Lys
XM_011516480.1:c.589G>A	XP_011514782.1:p.Glu197Lys
XM_011516480.2:c.589G>A	XP_011514782.1:p.Glu197Lys
XM_011516481.1:c.589G>A	XP_011514783.1:p.Glu197Lys
XM_011516482.1:c.511G>A	XP_011514784.1:p.Glu171Lys