Canonical Allele Identifier: CA399562246
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336434C>A (hg19) chr17:g.42184416C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184416C>A , CM000679.2:g.42184416C>A GRCh38
NC_000017.10:g.40336434C>A , CM000679.1:g.40336434C>A GRCh37
NC_000017.9:g.37589960C>A NCBI36
NG_011448.1:g.6037G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.134G>T MANE Select ENSP00000293330.1:p.Cys45Phe
NM_001524.1:c.134G>T MANE Select NP_001515.1:p.Cys45Phe
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