Canonical Allele Identifier: CA500214073
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336523T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184505T>G , CM000679.2:g.42184505T>G GRCh38
NC_000017.10:g.40336523T>G , CM000679.1:g.40336523T>G GRCh37
NC_000017.9:g.37590049T>G NCBI36
NG_011448.1:g.5948A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.45A>C MANE Select ENSP00000293330.1:p.Leu15=
NM_001524.1:c.45A>C MANE Select NP_001515.1:p.Leu15=