Canonical Allele Identifier: CA290717957
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs1032981722

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184625C>G , CM000679.2:g.42184625C>G GRCh38
NC_000017.10:g.40336643C>G , CM000679.1:g.40336643C>G GRCh37
NC_000017.9:g.37590169C>G NCBI36
NG_011448.1:g.5828G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-97G>C MANE Select ENSP00000293330.1:n.22-97G>C
NM_001524.1:c.22-97G>C MANE Select NP_001515.1:n.22-97G>C