Canonical Allele Identifier: CA399562419
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184504-G-T
MyVariant Identifiers: chr17:g.40336522G>T (hg19) chr17:g.42184504G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184504G>T , CM000679.2:g.42184504G>T GRCh38
NC_000017.10:g.40336522G>T , CM000679.1:g.40336522G>T GRCh37
NC_000017.9:g.37590048G>T NCBI36
NG_011448.1:g.5949C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.46C>A MANE Select ENSP00000293330.1:p.Leu16Met
NM_001524.1:c.46C>A MANE Select NP_001515.1:p.Leu16Met
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