Canonical Allele Identifier: CA338066604

Gene: CHD5

Linked Data

• MyVariant Identifiers: chr1:g.6172242T>A (hg19) ; chr1:g.6112182T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262450.8:c.5098A>T MANE Select	ENSP00000262450.3:p.Lys1700Ter
ENST00000262450.7:c.5098A>T	ENSP00000262450.3:p.Lys1700Ter
ENST00000377999.5:c.2001A>T	ENSP00000367238.2:n.2001A>T
ENST00000462991.5:c.3351A>T
ENST00000496404.1:c.3816A>T	ENSP00000433676.1:n.3816A>T
NM_015557.2:c.5098A>T	NP_056372.1:p.Lys1700Ter
NM_015557.3:c.5098A>T MANE Select	NP_056372.1:p.Lys1700Ter