Canonical Allele Identifier: CA8573256

Gene: HCRT

Linked Data

• dbSNP Id: rs757990613
• ExAC: 17:40336466 C / T
• gnomAD v2: 17-40336466-C-T
• gnomAD v4: 17-42184448-C-T
• MyVariant Identifiers: chr17:g.40336466C>T (hg19) ; chr17:g.42184448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184448C>T , CM000679.2:g.42184448C>T	GRCh38
NC_000017.10:g.40336466C>T , CM000679.1:g.40336466C>T	GRCh37
NC_000017.9:g.37589992C>T	NCBI36
NG_011448.1:g.6005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.102G>A MANE Select	ENSP00000293330.1:p.Gln34=
NM_001524.1:c.102G>A MANE Select	NP_001515.1:p.Gln34=