Canonical Allele Identifier: CA338066610
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172244C>G (hg19) chr1:g.6112184C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112184C>G , CM000663.2:g.6112184C>G GRCh38
NC_000001.10:g.6172244C>G , CM000663.1:g.6172244C>G GRCh37
NC_000001.9:g.6094831C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5096G>C MANE Select ENSP00000262450.3:p.Gly1699Ala
ENST00000262450.7:c.5096G>C ENSP00000262450.3:p.Gly1699Ala
ENST00000377999.5:c.1999G>C ENSP00000367238.2:n.1999G>C
ENST00000462991.5:c.3349G>C
ENST00000496404.1:c.3814G>C ENSP00000433676.1:n.3814G>C
NM_015557.2:c.5096G>C NP_056372.1:p.Gly1699Ala
NM_015557.3:c.5096G>C MANE Select NP_056372.1:p.Gly1699Ala
Search 100 bp 5'
Search 100 bp 3'