Canonical Allele Identifier: CA399562421

Gene: HCRT

Linked Data

• dbSNP Id: rs2079924149
• gnomAD v4: 17-42184506-A-G
• MyVariant Identifiers: chr17:g.40336524A>G (hg19) ; chr17:g.42184506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184506A>G , CM000679.2:g.42184506A>G	GRCh38
NC_000017.10:g.40336524A>G , CM000679.1:g.40336524A>G	GRCh37
NC_000017.9:g.37590050A>G	NCBI36
NG_011448.1:g.5947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.44T>C MANE Select	ENSP00000293330.1:p.Leu15Pro
NM_001524.1:c.44T>C MANE Select	NP_001515.1:p.Leu15Pro