Canonical Allele Identifier: CA399562446

Gene: HCRT

Linked Data

• gnomAD v4: 17-42184520-C-A
• MyVariant Identifiers: chr17:g.40336538C>A (hg19) ; chr17:g.42184520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184520C>A , CM000679.2:g.42184520C>A	GRCh38
NC_000017.10:g.40336538C>A , CM000679.1:g.40336538C>A	GRCh37
NC_000017.9:g.37590064C>A	NCBI36
NG_011448.1:g.5933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.30G>T MANE Select	ENSP00000293330.1:p.Trp10Cys
NM_001524.1:c.30G>T MANE Select	NP_001515.1:p.Trp10Cys