Canonical Allele Identifier: CA338066594
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172240T>A (hg19) chr1:g.6112180T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112180T>A , CM000663.2:g.6112180T>A GRCh38
NC_000001.10:g.6172240T>A , CM000663.1:g.6172240T>A GRCh37
NC_000001.9:g.6094827T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5100A>T MANE Select ENSP00000262450.3:p.Lys1700Asn
ENST00000262450.7:c.5100A>T ENSP00000262450.3:p.Lys1700Asn
ENST00000377999.5:c.2003A>T ENSP00000367238.2:n.2003A>T
ENST00000462991.5:c.3353A>T
ENST00000496404.1:c.3818A>T ENSP00000433676.1:n.3818A>T
NM_015557.2:c.5100A>T NP_056372.1:p.Lys1700Asn
NM_015557.3:c.5100A>T MANE Select NP_056372.1:p.Lys1700Asn
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