Canonical Allele Identifier: CA290717961
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs996979547

Genomic Alleles

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

Transcript Alleles

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