Canonical Allele Identifier: CA399562351

Gene: HCRT

Linked Data

• MyVariant Identifiers: chr17:g.40336482G>C (hg19) ; chr17:g.42184464G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184464G>C , CM000679.2:g.42184464G>C	GRCh38
NC_000017.10:g.40336482G>C , CM000679.1:g.40336482G>C	GRCh37
NC_000017.9:g.37590008G>C	NCBI36
NG_011448.1:g.5989C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.86C>G MANE Select	ENSP00000293330.1:p.Ser29Cys
NM_001524.1:c.86C>G MANE Select	NP_001515.1:p.Ser29Cys