Canonical Allele Identifier: CA340843
Community Standard Title: NM_000193.4(SHH):c.263A>T (p.Asp88Val)
Gene: SHH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811860T>A , CM000669.2:g.155811860T>A GRCh38
NC_000007.13:g.155604554T>A , CM000669.1:g.155604554T>A GRCh37
NC_000007.12:g.155297315T>A NCBI36
NG_007504.2:g.5414A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000193.4:c.263A>T MANE Select NP_000184.1:p.Asp88Val
ENST00000297261.7:c.263A>T MANE Select ENSP00000297261.2:p.Asp88Val
NM_000193.2:c.263A>T NP_000184.1:p.Asp88Val
NM_000193.3:c.263A>T NP_000184.1:p.Asp88Val
ENST00000297261.6:c.263A>T ENSP00000297261.2:p.Asp88Val
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