Canonical Allele Identifier: CA556911
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs201669476
ExAC: 1:6204066 C / T
gnomAD v2: 1-6204066-C-T
gnomAD v3: 1-6144006-C-T
gnomAD v4: 1-6144006-C-T
MyVariant Identifiers: chr1:g.6204066C>T (hg19) chr1:g.6144006C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6144006C>T , CM000663.2:g.6144006C>T GRCh38
NC_000001.10:g.6204066C>T , CM000663.1:g.6204066C>T GRCh37
NC_000001.9:g.6126653C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.1934+18G>A MANE Select ENSP00000262450.3:n.1934+18G>A
ENST00000262450.7:c.1934+18G>A ENSP00000262450.3:n.1934+18G>A
ENST00000462991.5:c.81+18G>A
ENST00000496404.1:c.1934+18G>A ENSP00000433676.1:n.1934+18G>A
NM_015557.2:c.1934+18G>A NP_056372.1:n.1934+18G>A
NM_015557.3:c.1934+18G>A MANE Select NP_056372.1:n.1934+18G>A
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