Canonical Allele Identifier: CA1109097360

Gene: SHH

Linked Data

• dbSNP Id: rs1342559546

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812273C>G , CM000669.2:g.155812273C>G	GRCh38
NC_000007.13:g.155604967C>G , CM000669.1:g.155604967C>G	GRCh37
NC_000007.12:g.155297728C>G	NCBI36
NG_007504.2:g.5001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-151G>C MANE Select	ENSP00000297261.2:n.-151G>C
ENST00000297261.6:c.-151G>C	ENSP00000297261.2:n.-151G>C
NM_000193.2:c.-151G>C	NP_000184.1:n.-151G>C
NM_000193.3:c.-151G>C	NP_000184.1:n.-151G>C
NM_000193.4:c.-151G>C MANE Select	NP_000184.1:n.-151G>C