Canonical Allele Identifier: CA370151147
Gene: SHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.155604557T>A (hg19) chr7:g.155811863T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811863T>A , CM000669.2:g.155811863T>A GRCh38
NC_000007.13:g.155604557T>A , CM000669.1:g.155604557T>A GRCh37
NC_000007.12:g.155297318T>A NCBI36
NG_007504.2:g.5411A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.260A>T MANE Select ENSP00000297261.2:p.Lys87Met
ENST00000297261.6:c.260A>T ENSP00000297261.2:p.Lys87Met
NM_000193.2:c.260A>T NP_000184.1:p.Lys87Met
NM_000193.3:c.260A>T NP_000184.1:p.Lys87Met
NM_000193.4:c.260A>T MANE Select NP_000184.1:p.Lys87Met
Search 100 bp 5'
Search 100 bp 3'