Canonical Allele Identifier: CA338081335
Gene: CHD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6144024C>A , CM000663.2:g.6144024C>A GRCh38
NC_000001.10:g.6204084C>A , CM000663.1:g.6204084C>A GRCh37
NC_000001.9:g.6126671C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.1934G>T MANE Select ENSP00000262450.3:p.Arg645Met
ENST00000262450.7:c.1934G>T ENSP00000262450.3:p.Arg645Met
ENST00000462991.5:c.81G>T
ENST00000496404.1:c.1934G>T ENSP00000433676.1:p.Arg645Met
NM_015557.2:c.1934G>T NP_056372.1:p.Arg645Met
NM_015557.3:c.1934G>T MANE Select NP_056372.1:p.Arg645Met