Canonical Allele Identifier: CA370152184
Gene: SHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.155604705T>C (hg19) chr7:g.155812011T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812011T>C , CM000669.2:g.155812011T>C GRCh38
NC_000007.13:g.155604705T>C , CM000669.1:g.155604705T>C GRCh37
NC_000007.12:g.155297466T>C NCBI36
NG_007504.2:g.5263A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.112A>G MANE Select ENSP00000297261.2:p.Lys38Glu
ENST00000297261.6:c.112A>G ENSP00000297261.2:p.Lys38Glu
NM_000193.2:c.112A>G NP_000184.1:p.Lys38Glu
NM_000193.3:c.112A>G NP_000184.1:p.Lys38Glu
NM_000193.4:c.112A>G MANE Select NP_000184.1:p.Lys38Glu
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