Canonical Allele Identifier: CA500214034

Gene: HCRT

Linked Data

• dbSNP Id: rs1484747224
• gnomAD v2: 17-40336487-C-T
• gnomAD v4: 17-42184469-C-T
• MyVariant Identifiers: chr17:g.40336487C>T (hg19) ; chr17:g.42184469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184469C>T , CM000679.2:g.42184469C>T	GRCh38
NC_000017.10:g.40336487C>T , CM000679.1:g.40336487C>T	GRCh37
NC_000017.9:g.37590013C>T	NCBI36
NG_011448.1:g.5984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.81G>A MANE Select	ENSP00000293330.1:p.Leu27=
NM_001524.1:c.81G>A MANE Select	NP_001515.1:p.Leu27=