Canonical Allele Identifier: CA416018488

Gene: CHD5

Linked Data

• MyVariant Identifiers: chr1:g.6172306A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112246A>T , CM000663.2:g.6112246A>T	GRCh38
NC_000001.10:g.6172306A>T , CM000663.1:g.6172306A>T	GRCh37
NC_000001.9:g.6094893A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262450.8:c.5034T>A MANE Select	ENSP00000262450.3:p.Ile1678=
ENST00000262450.7:c.5034T>A	ENSP00000262450.3:p.Ile1678=
ENST00000377999.5:c.1937T>A	ENSP00000367238.2:n.1937T>A
ENST00000462991.5:c.3287T>A
ENST00000496404.1:c.3752T>A	ENSP00000433676.1:n.3752T>A
NM_015557.2:c.5034T>A	NP_056372.1:p.Ile1678=
NM_015557.3:c.5034T>A MANE Select	NP_056372.1:p.Ile1678=