Canonical Allele Identifier: CA338066461
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172220A>C (hg19) chr1:g.6112160A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112160A>C , CM000663.2:g.6112160A>C GRCh38
NC_000001.10:g.6172220A>C , CM000663.1:g.6172220A>C GRCh37
NC_000001.9:g.6094807A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5120T>G MANE Select ENSP00000262450.3:p.Ile1707Ser
ENST00000262450.7:c.5120T>G ENSP00000262450.3:p.Ile1707Ser
ENST00000377999.5:c.2023T>G ENSP00000367238.2:n.2023T>G
ENST00000462991.5:c.3373T>G
ENST00000496404.1:c.3838T>G ENSP00000433676.1:n.3838T>G
NM_015557.2:c.5120T>G NP_056372.1:p.Ile1707Ser
NM_015557.3:c.5120T>G MANE Select NP_056372.1:p.Ile1707Ser
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