Canonical Allele Identifier: CA2637931115
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184643-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184643C>T , CM000679.2:g.42184643C>T GRCh38
NC_000017.10:g.40336661C>T , CM000679.1:g.40336661C>T GRCh37
NC_000017.9:g.37590187C>T NCBI36
NG_011448.1:g.5810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-115G>A MANE Select ENSP00000293330.1:n.22-115G>A
NM_001524.1:c.22-115G>A MANE Select NP_001515.1:n.22-115G>A
Search 100 bp 5'
Search 100 bp 3'