Canonical Allele Identifier: CA290717964
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs934169902
MyVariant Identifiers: chr17:g.40336662T>A (hg19) chr17:g.42184644T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184644T>A , CM000679.2:g.42184644T>A GRCh38
NC_000017.10:g.40336662T>A , CM000679.1:g.40336662T>A GRCh37
NC_000017.9:g.37590188T>A NCBI36
NG_011448.1:g.5809A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-116A>T MANE Select ENSP00000293330.1:n.22-116A>T
NM_001524.1:c.22-116A>T MANE Select NP_001515.1:n.22-116A>T
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