Canonical Allele Identifier: CA370152325
Gene: SHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.155604723T>G (hg19) chr7:g.155812029T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812029T>G , CM000669.2:g.155812029T>G GRCh38
NC_000007.13:g.155604723T>G , CM000669.1:g.155604723T>G GRCh37
NC_000007.12:g.155297484T>G NCBI36
NG_007504.2:g.5245A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.94A>C MANE Select ENSP00000297261.2:p.Lys32Gln
ENST00000297261.6:c.94A>C ENSP00000297261.2:p.Lys32Gln
NM_000193.2:c.94A>C NP_000184.1:p.Lys32Gln
NM_000193.3:c.94A>C NP_000184.1:p.Lys32Gln
NM_000193.4:c.94A>C MANE Select NP_000184.1:p.Lys32Gln
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