Canonical Allele Identifier: CA370151739
Gene: SHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.155604644G>C (hg19) chr7:g.155811950G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811950G>C , CM000669.2:g.155811950G>C GRCh38
NC_000007.13:g.155604644G>C , CM000669.1:g.155604644G>C GRCh37
NC_000007.12:g.155297405G>C NCBI36
NG_007504.2:g.5324C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.173C>G MANE Select ENSP00000297261.2:p.Ala58Gly
ENST00000297261.6:c.173C>G ENSP00000297261.2:p.Ala58Gly
NM_000193.2:c.173C>G NP_000184.1:p.Ala58Gly
NM_000193.3:c.173C>G NP_000184.1:p.Ala58Gly
NM_000193.4:c.173C>G MANE Select NP_000184.1:p.Ala58Gly
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