Canonical Allele Identifier: CA399562344

Gene: HCRT

Linked Data

• MyVariant Identifiers: chr17:g.40336479C>T (hg19) ; chr17:g.42184461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184461C>T , CM000679.2:g.42184461C>T	GRCh38
NC_000017.10:g.40336479C>T , CM000679.1:g.40336479C>T	GRCh37
NC_000017.9:g.37590005C>T	NCBI36
NG_011448.1:g.5992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.89G>A MANE Select	ENSP00000293330.1:p.Gly30Glu
NM_001524.1:c.89G>A MANE Select	NP_001515.1:p.Gly30Glu