Canonical Allele Identifier: CA772085961

Gene: HCRT

Linked Data

• dbSNP Id: rs1342652922
• gnomAD v3: 17-42184626-C-G
• gnomAD v4: 17-42184626-C-G
• MyVariant Identifiers: chr17:g.40336644C>G (hg19) ; chr17:g.42184626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184626C>G , CM000679.2:g.42184626C>G	GRCh38
NC_000017.10:g.40336644C>G , CM000679.1:g.40336644C>G	GRCh37
NC_000017.9:g.37590170C>G	NCBI36
NG_011448.1:g.5827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22-98G>C MANE Select	ENSP00000293330.1:n.22-98G>C
NM_001524.1:c.22-98G>C MANE Select	NP_001515.1:n.22-98G>C