Canonical Allele Identifier: CA555930
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs755282092
ExAC: 1:6172289 C / A
gnomAD v2: 1-6172289-C-A
gnomAD v3: 1-6112229-C-A
gnomAD v4: 1-6112229-C-A
MyVariant Identifiers: chr1:g.6172289C>A (hg19) chr1:g.6112229C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112229C>A , CM000663.2:g.6112229C>A GRCh38
NC_000001.10:g.6172289C>A , CM000663.1:g.6172289C>A GRCh37
NC_000001.9:g.6094876C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5051G>T MANE Select ENSP00000262450.3:p.Gly1684Val
ENST00000262450.7:c.5051G>T ENSP00000262450.3:p.Gly1684Val
ENST00000377999.5:c.1954G>T ENSP00000367238.2:n.1954G>T
ENST00000462991.5:c.3304G>T
ENST00000496404.1:c.3769G>T ENSP00000433676.1:n.3769G>T
NM_015557.2:c.5051G>T NP_056372.1:p.Gly1684Val
NM_015557.3:c.5051G>T MANE Select NP_056372.1:p.Gly1684Val
Search 100 bp 5'
Search 100 bp 3'