Canonical Allele Identifier: CA520750770
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs1204901502
gnomAD v2: 1-6172351-A-G
gnomAD v4: 1-6112291-A-G
MyVariant Identifiers: chr1:g.6172351A>G (hg19) chr1:g.6112291A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112291A>G , CM000663.2:g.6112291A>G GRCh38
NC_000001.10:g.6172351A>G , CM000663.1:g.6172351A>G GRCh37
NC_000001.9:g.6094938A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5003-14T>C MANE Select ENSP00000262450.3:n.5003-14T>C
ENST00000262450.7:c.5003-14T>C ENSP00000262450.3:n.5003-14T>C
ENST00000377999.5:c.1906-14T>C ENSP00000367238.2:n.1906-14T>C
ENST00000462991.5:c.3256-14T>C
ENST00000496404.1:c.3721-14T>C ENSP00000433676.1:n.3721-14T>C
NM_015557.2:c.5003-14T>C NP_056372.1:n.5003-14T>C
NM_015557.3:c.5003-14T>C MANE Select NP_056372.1:n.5003-14T>C
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