Canonical Allele Identifier: CA290717982
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs928967362
gnomAD v3: 17-42184748-T-A
gnomAD v4: 17-42184748-T-A
MyVariant Identifiers: chr17:g.40336766T>A (hg19) chr17:g.42184748T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184748T>A , CM000679.2:g.42184748T>A GRCh38
NC_000017.10:g.40336766T>A , CM000679.1:g.40336766T>A GRCh37
NC_000017.9:g.37590292T>A NCBI36
NG_011448.1:g.5705A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-220A>T MANE Select ENSP00000293330.1:n.22-220A>T
NM_001524.1:c.22-220A>T MANE Select NP_001515.1:n.22-220A>T
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