Canonical Allele Identifier: CA338066555

Gene: CHD5

Linked Data

• MyVariant Identifiers: chr1:g.6172236T>A (hg19) ; chr1:g.6112176T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112176T>A , CM000663.2:g.6112176T>A	GRCh38
NC_000001.10:g.6172236T>A , CM000663.1:g.6172236T>A	GRCh37
NC_000001.9:g.6094823T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262450.8:c.5104A>T MANE Select	ENSP00000262450.3:p.Lys1702Ter
ENST00000262450.7:c.5104A>T	ENSP00000262450.3:p.Lys1702Ter
ENST00000377999.5:c.2007A>T	ENSP00000367238.2:n.2007A>T
ENST00000462991.5:c.3357A>T
ENST00000496404.1:c.3822A>T	ENSP00000433676.1:n.3822A>T
NM_015557.2:c.5104A>T	NP_056372.1:p.Lys1702Ter
NM_015557.3:c.5104A>T MANE Select	NP_056372.1:p.Lys1702Ter