Canonical Allele Identifier: CA370149383

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155599218A>G (hg19) ; chr7:g.155806524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806524A>G , CM000669.2:g.155806524A>G	GRCh38
NC_000007.13:g.155599218A>G , CM000669.1:g.155599218A>G	GRCh37
NC_000007.12:g.155291979A>G	NCBI36
NG_007504.2:g.10750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.334T>C MANE Select	ENSP00000297261.2:p.Ser112Pro
ENST00000297261.6:c.334T>C	ENSP00000297261.2:p.Ser112Pro
ENST00000430104.5:c.73T>C	ENSP00000396621.1:p.Ser25Pro
ENST00000435425.1:c.73T>C	ENSP00000413871.1:p.Ser25Pro
ENST00000441114.5:c.73T>C	ENSP00000410546.1:p.Ser25Pro
NM_000193.2:c.334T>C	NP_000184.1:p.Ser112Pro
NM_000193.3:c.334T>C	NP_000184.1:p.Ser112Pro
NM_001310462.1:c.73T>C	NP_001297391.1:p.Ser25Pro
NR_132318.1:n.243T>C
NR_132319.1:n.243T>C
XM_011516479.1:c.73T>C	XP_011514781.1:p.Ser25Pro
XM_011516480.1:c.73T>C	XP_011514782.1:p.Ser25Pro
XM_011516481.1:c.73T>C	XP_011514783.1:p.Ser25Pro
XM_011516482.1:c.-6T>C	XP_011514784.1:n.-6T>C
XM_011516479.2:c.73T>C	XP_011514781.1:p.Ser25Pro
XM_011516480.2:c.73T>C	XP_011514782.1:p.Ser25Pro
NM_000193.4:c.334T>C MANE Select	NP_000184.1:p.Ser112Pro
NM_001310462.2:c.73T>C	NP_001297391.1:p.Ser25Pro
NR_132318.2:n.334T>C
NR_132319.2:n.334T>C