Canonical Allele Identifier: CA399562470
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336548T>A (hg19) chr17:g.42184530T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184530T>A , CM000679.2:g.42184530T>A GRCh38
NC_000017.10:g.40336548T>A , CM000679.1:g.40336548T>A GRCh37
NC_000017.9:g.37590074T>A NCBI36
NG_011448.1:g.5923A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-2A>T MANE Select ENSP00000293330.1:n.22-2A>T
NM_001524.1:c.22-2A>T MANE Select NP_001515.1:n.22-2A>T
Search 100 bp 5'
Search 100 bp 3'