Canonical Allele Identifier: CA370149362

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155599209T>A (hg19) ; chr7:g.155806515T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806515T>A , CM000669.2:g.155806515T>A	GRCh38
NC_000007.13:g.155599209T>A , CM000669.1:g.155599209T>A	GRCh37
NC_000007.12:g.155291970T>A	NCBI36
NG_007504.2:g.10759A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.343A>T MANE Select	ENSP00000297261.2:p.Asn115Tyr
ENST00000297261.6:c.343A>T	ENSP00000297261.2:p.Asn115Tyr
ENST00000430104.5:c.82A>T	ENSP00000396621.1:p.Asn28Tyr
ENST00000435425.1:c.82A>T	ENSP00000413871.1:p.Asn28Tyr
ENST00000441114.5:c.82A>T	ENSP00000410546.1:p.Asn28Tyr
NM_000193.2:c.343A>T	NP_000184.1:p.Asn115Tyr
NM_000193.3:c.343A>T	NP_000184.1:p.Asn115Tyr
NM_001310462.1:c.82A>T	NP_001297391.1:p.Asn28Tyr
NR_132318.1:n.252A>T
NR_132319.1:n.252A>T
XM_011516479.1:c.82A>T	XP_011514781.1:p.Asn28Tyr
XM_011516480.1:c.82A>T	XP_011514782.1:p.Asn28Tyr
XM_011516481.1:c.82A>T	XP_011514783.1:p.Asn28Tyr
XM_011516482.1:c.4A>T	XP_011514784.1:p.Asn2Tyr
XM_011516479.2:c.82A>T	XP_011514781.1:p.Asn28Tyr
XM_011516480.2:c.82A>T	XP_011514782.1:p.Asn28Tyr
NM_000193.4:c.343A>T MANE Select	NP_000184.1:p.Asn115Tyr
NM_001310462.2:c.82A>T	NP_001297391.1:p.Asn28Tyr
NR_132318.2:n.343A>T
NR_132319.2:n.343A>T