Canonical Allele Identifier: CA500214079
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336529C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184511C>T , CM000679.2:g.42184511C>T GRCh38
NC_000017.10:g.40336529C>T , CM000679.1:g.40336529C>T GRCh37
NC_000017.9:g.37590055C>T NCBI36
NG_011448.1:g.5942G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.39G>A MANE Select ENSP00000293330.1:p.Val13=
NM_001524.1:c.39G>A MANE Select NP_001515.1:p.Val13=