Canonical Allele Identifier: CA399562290

Gene: HCRT

Linked Data

• MyVariant Identifiers: chr17:g.40336452C>G (hg19) ; chr17:g.42184434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184434C>G , CM000679.2:g.42184434C>G	GRCh38
NC_000017.10:g.40336452C>G , CM000679.1:g.40336452C>G	GRCh37
NC_000017.9:g.37589978C>G	NCBI36
NG_011448.1:g.6019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.116G>C MANE Select	ENSP00000293330.1:p.Cys39Ser
NM_001524.1:c.116G>C MANE Select	NP_001515.1:p.Cys39Ser