Canonical Allele Identifier: CA290717957

Gene: HCRT

Linked Data

• dbSNP Id: rs1032981722
• gnomAD v4: 17-42184625-C-G
• MyVariant Identifiers: chr17:g.40336643C>G (hg19) ; chr17:g.42184625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184625C>G , CM000679.2:g.42184625C>G	GRCh38
NC_000017.10:g.40336643C>G , CM000679.1:g.40336643C>G	GRCh37
NC_000017.9:g.37590169C>G	NCBI36
NG_011448.1:g.5828G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22-97G>C MANE Select	ENSP00000293330.1:n.22-97G>C
NM_001524.1:c.22-97G>C MANE Select	NP_001515.1:n.22-97G>C