Canonical Allele Identifier: CA500214074
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184507-G-A
MyVariant Identifiers: chr17:g.40336525G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184507G>A , CM000679.2:g.42184507G>A GRCh38
NC_000017.10:g.40336525G>A , CM000679.1:g.40336525G>A GRCh37
NC_000017.9:g.37590051G>A NCBI36
NG_011448.1:g.5946C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.43C>T MANE Select ENSP00000293330.1:p.Leu15=
NM_001524.1:c.43C>T MANE Select NP_001515.1:p.Leu15=
Search 100 bp 5'
Search 100 bp 3'