Canonical Allele Identifier: CA500214080
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336529C>G (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.39G>C MANE Select ENSP00000293330.1:p.Val13=
NM_001524.1:c.39G>C MANE Select NP_001515.1:p.Val13=
Search 100 bp 5'
Search 100 bp 3'