Canonical Allele Identifier: CA399562285

Gene: HCRT

Linked Data

• gnomAD v4: 17-42184432-A-G
• MyVariant Identifiers: chr17:g.40336450A>G (hg19) ; chr17:g.42184432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184432A>G , CM000679.2:g.42184432A>G	GRCh38
NC_000017.10:g.40336450A>G , CM000679.1:g.40336450A>G	GRCh37
NC_000017.9:g.37589976A>G	NCBI36
NG_011448.1:g.6021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.118T>C MANE Select	ENSP00000293330.1:p.Cys40Arg
NM_001524.1:c.118T>C MANE Select	NP_001515.1:p.Cys40Arg