Canonical Allele Identifier: CA349750583
Gene: FRZB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838514G>T , CM000664.2:g.182838514G>T GRCh38
NC_000002.11:g.183703242G>T , CM000664.1:g.183703242G>T GRCh37
NC_000002.10:g.183411487G>T NCBI36
NG_017197.1:g.33257C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295113.5:c.692C>A MANE Select ENSP00000295113.4:p.Pro231Gln
ENST00000295113.4:c.692C>A ENSP00000295113.4:p.Pro231Gln
NM_001463.3:c.692C>A NP_001454.2:p.Pro231Gln
NM_001463.4:c.692C>A MANE Select NP_001454.2:p.Pro231Gln