Canonical Allele Identifier: CA399562225
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336425C>G (hg19) chr17:g.42184407C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184407C>G , CM000679.2:g.42184407C>G GRCh38
NC_000017.10:g.40336425C>G , CM000679.1:g.40336425C>G GRCh37
NC_000017.9:g.37589951C>G NCBI36
NG_011448.1:g.6046G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.143G>C MANE Select ENSP00000293330.1:p.Arg48Pro
NM_001524.1:c.143G>C MANE Select NP_001515.1:p.Arg48Pro
Search 100 bp 5'
Search 100 bp 3'