Canonical Allele Identifier: CA500214013
Gene: HCRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40336454G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184436G>A , CM000679.2:g.42184436G>A GRCh38
NC_000017.10:g.40336454G>A , CM000679.1:g.40336454G>A GRCh37
NC_000017.9:g.37589980G>A NCBI36
NG_011448.1:g.6017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.114C>T MANE Select ENSP00000293330.1:p.Asp38=
NM_001524.1:c.114C>T MANE Select NP_001515.1:p.Asp38=