Canonical Allele Identifier: CA2642935688
Gene: CHD5 HGNC NCBI

Linked Data

gnomAD v4: 1-6144008-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6144008G>A , CM000663.2:g.6144008G>A GRCh38
NC_000001.10:g.6204068G>A , CM000663.1:g.6204068G>A GRCh37
NC_000001.9:g.6126655G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.1934+16C>T MANE Select ENSP00000262450.3:n.1934+16C>T
ENST00000262450.7:c.1934+16C>T ENSP00000262450.3:n.1934+16C>T
ENST00000462991.5:c.81+16C>T
ENST00000496404.1:c.1934+16C>T ENSP00000433676.1:n.1934+16C>T
NM_015557.2:c.1934+16C>T NP_056372.1:n.1934+16C>T
NM_015557.3:c.1934+16C>T MANE Select NP_056372.1:n.1934+16C>T
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