Canonical Allele Identifier: CA338066606
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172242T>C (hg19) chr1:g.6112182T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112182T>C , CM000663.2:g.6112182T>C GRCh38
NC_000001.10:g.6172242T>C , CM000663.1:g.6172242T>C GRCh37
NC_000001.9:g.6094829T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5098A>G MANE Select ENSP00000262450.3:p.Lys1700Glu
ENST00000262450.7:c.5098A>G ENSP00000262450.3:p.Lys1700Glu
ENST00000377999.5:c.2001A>G ENSP00000367238.2:n.2001A>G
ENST00000462991.5:c.3351A>G
ENST00000496404.1:c.3816A>G ENSP00000433676.1:n.3816A>G
NM_015557.2:c.5098A>G NP_056372.1:p.Lys1700Glu
NM_015557.3:c.5098A>G MANE Select NP_056372.1:p.Lys1700Glu
Search 100 bp 5'
Search 100 bp 3'