Canonical Allele Identifier: CA338081326

Gene: CHD5

Linked Data

• MyVariant Identifiers: chr1:g.6204082A>C (hg19) ; chr1:g.6144022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6144022A>C , CM000663.2:g.6144022A>C	GRCh38
NC_000001.10:g.6204082A>C , CM000663.1:g.6204082A>C	GRCh37
NC_000001.9:g.6126669A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262450.8:c.1934+2T>G MANE Select	ENSP00000262450.3:n.1934+2T>G
ENST00000262450.7:c.1934+2T>G	ENSP00000262450.3:n.1934+2T>G
ENST00000462991.5:c.81+2T>G
ENST00000496404.1:c.1934+2T>G	ENSP00000433676.1:n.1934+2T>G
NM_015557.2:c.1934+2T>G	NP_056372.1:n.1934+2T>G
NM_015557.3:c.1934+2T>G MANE Select	NP_056372.1:n.1934+2T>G