Canonical Allele Identifier: CA2579074879

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812153G>C , CM000669.2:g.155812153G>C	GRCh38
NC_000007.13:g.155604847G>C , CM000669.1:g.155604847G>C	GRCh37
NC_000007.12:g.155297608G>C	NCBI36
NG_007504.2:g.5121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-31C>G MANE Select	ENSP00000297261.2:n.-31C>G
ENST00000297261.6:c.-31C>G	ENSP00000297261.2:n.-31C>G
NM_000193.2:c.-31C>G	NP_000184.1:n.-31C>G
NM_000193.3:c.-31C>G	NP_000184.1:n.-31C>G
NM_000193.4:c.-31C>G MANE Select	NP_000184.1:n.-31C>G