Canonical Allele Identifier: CA399562226
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs1598282482
gnomAD v4: 17-42184407-C-T
MyVariant Identifiers: chr17:g.40336425C>T (hg19) chr17:g.42184407C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184407C>T , CM000679.2:g.42184407C>T GRCh38
NC_000017.10:g.40336425C>T , CM000679.1:g.40336425C>T GRCh37
NC_000017.9:g.37589951C>T NCBI36
NG_011448.1:g.6046G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.143G>A MANE Select ENSP00000293330.1:p.Arg48His
NM_001524.1:c.143G>A MANE Select NP_001515.1:p.Arg48His
Search 100 bp 5'
Search 100 bp 3'