Canonical Allele Identifier: CA399562295

Gene: HCRT

Linked Data

• gnomAD v4: 17-42184436-G-T
• MyVariant Identifiers: chr17:g.40336454G>T (hg19) ; chr17:g.42184436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184436G>T , CM000679.2:g.42184436G>T	GRCh38
NC_000017.10:g.40336454G>T , CM000679.1:g.40336454G>T	GRCh37
NC_000017.9:g.37589980G>T	NCBI36
NG_011448.1:g.6017C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.114C>A MANE Select	ENSP00000293330.1:p.Asp38Glu
NM_001524.1:c.114C>A MANE Select	NP_001515.1:p.Asp38Glu