Canonical Allele Identifier: CA500214071
Gene: HCRT HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.46C>T MANE Select ENSP00000293330.1:p.Leu16=
NM_001524.1:c.46C>T MANE Select NP_001515.1:p.Leu16=
Search 100 bp 5'
Search 100 bp 3'