Canonical Allele Identifier: CA243116

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803392C>G , CM000669.2:g.155803392C>G	GRCh38
NC_000007.13:g.155596086C>G , CM000669.1:g.155596086C>G	GRCh37
NC_000007.12:g.155288847C>G	NCBI36
NG_007504.2:g.13882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.897G>C MANE Select	ENSP00000297261.2:p.Leu299=
ENST00000297261.6:c.897G>C	ENSP00000297261.2:p.Leu299=
ENST00000430104.5:c.301+2904G>C	ENSP00000396621.1:n.301+2904G>C
ENST00000435425.1:c.302-2795G>C	ENSP00000413871.1:n.302-2795G>C
ENST00000441114.5:c.302-2725G>C	ENSP00000410546.1:n.302-2725G>C
NM_000193.2:c.897G>C	NP_000184.1:p.Leu299=
NM_000193.3:c.897G>C	NP_000184.1:p.Leu299=
NM_001310462.1:c.301+2904G>C	NP_001297391.1:n.301+2904G>C
NR_132318.1:n.472-2725G>C
NR_132319.1:n.472-2795G>C
XM_011516479.1:c.636G>C	XP_011514781.1:p.Leu212=
XM_011516480.1:c.636G>C	XP_011514782.1:p.Leu212=
XM_011516481.1:c.636G>C	XP_011514783.1:p.Leu212=
XM_011516482.1:c.558G>C	XP_011514784.1:p.Leu186=
XM_011516479.2:c.636G>C	XP_011514781.1:p.Leu212=
XM_011516480.2:c.636G>C	XP_011514782.1:p.Leu212=
NM_000193.4:c.897G>C MANE Select	NP_000184.1:p.Leu299=
NM_001310462.2:c.301+2904G>C	NP_001297391.1:n.301+2904G>C
NR_132318.2:n.563-2725G>C
NR_132319.2:n.563-2795G>C