Canonical Allele Identifier: CA370151070

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155604546T>G (hg19) ; chr7:g.155811852T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155811852T>G , CM000669.2:g.155811852T>G	GRCh38
NC_000007.13:g.155604546T>G , CM000669.1:g.155604546T>G	GRCh37
NC_000007.12:g.155297307T>G	NCBI36
NG_007504.2:g.5422A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.271A>C MANE Select	ENSP00000297261.2:p.Asn91His
ENST00000297261.6:c.271A>C	ENSP00000297261.2:p.Asn91His
NM_000193.2:c.271A>C	NP_000184.1:p.Asn91His
NM_000193.3:c.271A>C	NP_000184.1:p.Asn91His
NM_000193.4:c.271A>C MANE Select	NP_000184.1:p.Asn91His