Canonical Allele Identifier: CA370146015

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803477A>G , CM000669.2:g.155803477A>G	GRCh38
NC_000007.13:g.155596171A>G , CM000669.1:g.155596171A>G	GRCh37
NC_000007.12:g.155288932A>G	NCBI36
NG_007504.2:g.13797T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.812T>C MANE Select	NP_000184.1:p.Leu271Pro
ENST00000297261.7:c.812T>C MANE Select	ENSP00000297261.2:p.Leu271Pro
NM_000193.2:c.812T>C	NP_000184.1:p.Leu271Pro
NM_000193.3:c.812T>C	NP_000184.1:p.Leu271Pro
NM_001310462.1:c.301+2819T>C	NP_001297391.1:n.301+2819T>C
NM_001310462.2:c.301+2819T>C	NP_001297391.1:n.301+2819T>C
NR_132318.1:n.472-2810T>C
NR_132318.2:n.563-2810T>C
NR_132319.1:n.471+2819T>C
NR_132319.2:n.562+2819T>C
ENST00000297261.6:c.812T>C	ENSP00000297261.2:p.Leu271Pro
ENST00000430104.5:c.301+2819T>C	ENSP00000396621.1:n.301+2819T>C
ENST00000435425.1:c.301+2819T>C	ENSP00000413871.1:n.301+2819T>C
ENST00000441114.5:c.302-2810T>C	ENSP00000410546.1:n.302-2810T>C
XM_011516479.1:c.551T>C	XP_011514781.1:p.Leu184Pro
XM_011516479.2:c.551T>C	XP_011514781.1:p.Leu184Pro
XM_011516480.1:c.551T>C	XP_011514782.1:p.Leu184Pro
XM_011516480.2:c.551T>C	XP_011514782.1:p.Leu184Pro
XM_011516481.1:c.551T>C	XP_011514783.1:p.Leu184Pro
XM_011516482.1:c.473T>C	XP_011514784.1:p.Leu158Pro