Canonical Allele Identifier: CA290717963

Gene: HCRT

Linked Data

• dbSNP Id: rs575374719
• gnomAD v4: 17-42184639-C-T
• MyVariant Identifiers: chr17:g.40336657C>T (hg19) ; chr17:g.42184639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184639C>T , CM000679.2:g.42184639C>T	GRCh38
NC_000017.10:g.40336657C>T , CM000679.1:g.40336657C>T	GRCh37
NC_000017.9:g.37590183C>T	NCBI36
NG_011448.1:g.5814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22-111G>A MANE Select	ENSP00000293330.1:n.22-111G>A
NM_001524.1:c.22-111G>A MANE Select	NP_001515.1:n.22-111G>A