Canonical Allele Identifier: CA370151927
Gene: SHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.155604672G>A (hg19) chr7:g.155811978G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811978G>A , CM000669.2:g.155811978G>A GRCh38
NC_000007.13:g.155604672G>A , CM000669.1:g.155604672G>A GRCh37
NC_000007.12:g.155297433G>A NCBI36
NG_007504.2:g.5296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.145C>T MANE Select ENSP00000297261.2:p.Pro49Ser
ENST00000297261.6:c.145C>T ENSP00000297261.2:p.Pro49Ser
NM_000193.2:c.145C>T NP_000184.1:p.Pro49Ser
NM_000193.3:c.145C>T NP_000184.1:p.Pro49Ser
NM_000193.4:c.145C>T MANE Select NP_000184.1:p.Pro49Ser
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