Canonical Allele Identifier: CA1754763768

Gene: SHH

Linked Data

• dbSNP Id: rs1584794220

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155800648G>A , CM000669.2:g.155800648G>A	GRCh38
NC_000007.13:g.155593342G>A , CM000669.1:g.155593342G>A	GRCh37
NC_000007.12:g.155286103G>A	NCBI36
NG_007504.2:g.16626C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.*2252C>T MANE Select	ENSP00000297261.2:n.*2252C>T
ENST00000297261.6:c.*2252C>T	ENSP00000297261.2:n.*2252C>T
ENST00000430104.5:c.302-403C>T	ENSP00000396621.1:n.302-403C>T
ENST00000435425.1:c.302-51C>T	ENSP00000413871.1:n.302-51C>T
ENST00000441114.5:c.321C>T	ENSP00000410546.1:p.Gly107=
NM_001310462.1:c.302-403C>T	NP_001297391.1:n.302-403C>T
NR_132318.1:n.491C>T
NR_132319.1:n.472-51C>T
XR_928240.1:n.1223C>T
NM_000193.4:c.*2252C>T MANE Select	NP_000184.1:n.*2252C>T
NM_001310462.2:c.302-403C>T	NP_001297391.1:n.302-403C>T
NR_132318.2:n.582C>T
NR_132319.2:n.563-51C>T