Canonical Allele Identifier: CA338066597

Gene: CHD5

Linked Data

• MyVariant Identifiers: chr1:g.6172241T>A (hg19) ; chr1:g.6112181T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112181T>A , CM000663.2:g.6112181T>A	GRCh38
NC_000001.10:g.6172241T>A , CM000663.1:g.6172241T>A	GRCh37
NC_000001.9:g.6094828T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262450.8:c.5099A>T MANE Select	ENSP00000262450.3:p.Lys1700Ile
ENST00000262450.7:c.5099A>T	ENSP00000262450.3:p.Lys1700Ile
ENST00000377999.5:c.2002A>T	ENSP00000367238.2:n.2002A>T
ENST00000462991.5:c.3352A>T
ENST00000496404.1:c.3817A>T	ENSP00000433676.1:n.3817A>T
NM_015557.2:c.5099A>T	NP_056372.1:p.Lys1700Ile
NM_015557.3:c.5099A>T MANE Select	NP_056372.1:p.Lys1700Ile