Canonical Allele Identifier: CA290717960
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs996979547

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184630C>A , CM000679.2:g.42184630C>A GRCh38
NC_000017.10:g.40336648C>A , CM000679.1:g.40336648C>A GRCh37
NC_000017.9:g.37590174C>A NCBI36
NG_011448.1:g.5823G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-102G>T MANE Select ENSP00000293330.1:n.22-102G>T
NM_001524.1:c.22-102G>T MANE Select NP_001515.1:n.22-102G>T