Canonical Allele Identifier: CA118704
Gene: HCRT HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42184503A>C
GRCh37 chr17:g.40336521A>C
Revel Score:
ENST00000293330 (MANE Select) 0.613
ClinVar RCV:
RCV000007726
ClinVar Variation:
7303
dbSNP:
104894574
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184503A>C , CM000679.2:g.42184503A>C GRCh38
NC_000017.10:g.40336521A>C , CM000679.1:g.40336521A>C GRCh37
NC_000017.9:g.37590047A>C NCBI36
NG_011448.1:g.5950T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.47T>G MANE Select ENSP00000293330.1:p.Leu16Arg
NM_001524.1:c.47T>G MANE Select NP_001515.1:p.Leu16Arg
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