Canonical Allele Identifier: CA370149385

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155599219G>C (hg19) ; chr7:g.155806525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806525G>C , CM000669.2:g.155806525G>C	GRCh38
NC_000007.13:g.155599219G>C , CM000669.1:g.155599219G>C	GRCh37
NC_000007.12:g.155291980G>C	NCBI36
NG_007504.2:g.10749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.333C>G MANE Select	ENSP00000297261.2:p.Ile111Met
ENST00000297261.6:c.333C>G	ENSP00000297261.2:p.Ile111Met
ENST00000430104.5:c.72C>G	ENSP00000396621.1:p.Ile24Met
ENST00000435425.1:c.72C>G	ENSP00000413871.1:p.Ile24Met
ENST00000441114.5:c.72C>G	ENSP00000410546.1:p.Ile24Met
NM_000193.2:c.333C>G	NP_000184.1:p.Ile111Met
NM_000193.3:c.333C>G	NP_000184.1:p.Ile111Met
NM_001310462.1:c.72C>G	NP_001297391.1:p.Ile24Met
NR_132318.1:n.242C>G
NR_132319.1:n.242C>G
XM_011516479.1:c.72C>G	XP_011514781.1:p.Ile24Met
XM_011516480.1:c.72C>G	XP_011514782.1:p.Ile24Met
XM_011516481.1:c.72C>G	XP_011514783.1:p.Ile24Met
XM_011516482.1:c.-7C>G	XP_011514784.1:n.-7C>G
XM_011516479.2:c.72C>G	XP_011514781.1:p.Ile24Met
XM_011516480.2:c.72C>G	XP_011514782.1:p.Ile24Met
NM_000193.4:c.333C>G MANE Select	NP_000184.1:p.Ile111Met
NM_001310462.2:c.72C>G	NP_001297391.1:p.Ile24Met
NR_132318.2:n.333C>G
NR_132319.2:n.333C>G