Canonical Allele Identifier: CA399562365

Gene: HCRT

Linked Data

• MyVariant Identifiers: chr17:g.40336489A>T (hg19) ; chr17:g.42184471A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184471A>T , CM000679.2:g.42184471A>T	GRCh38
NC_000017.10:g.40336489A>T , CM000679.1:g.40336489A>T	GRCh37
NC_000017.9:g.37590015A>T	NCBI36
NG_011448.1:g.5982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.79T>A MANE Select	ENSP00000293330.1:p.Leu27Met
NM_001524.1:c.79T>A MANE Select	NP_001515.1:p.Leu27Met