Canonical Allele Identifier: CA556917
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs377035401
ExAC: 1:6204086 G / T
gnomAD v2: 1-6204086-G-T
gnomAD v4: 1-6144026-G-T
MyVariant Identifiers: chr1:g.6204086G>T (hg19) chr1:g.6144026G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6144026G>T , CM000663.2:g.6144026G>T GRCh38
NC_000001.10:g.6204086G>T , CM000663.1:g.6204086G>T GRCh37
NC_000001.9:g.6126673G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.1932C>A MANE Select ENSP00000262450.3:p.His644Gln
ENST00000262450.7:c.1932C>A ENSP00000262450.3:p.His644Gln
ENST00000462991.5:c.79C>A
ENST00000496404.1:c.1932C>A ENSP00000433676.1:p.His644Gln
NM_015557.2:c.1932C>A NP_056372.1:p.His644Gln
NM_015557.3:c.1932C>A MANE Select NP_056372.1:p.His644Gln
Search 100 bp 5'
Search 100 bp 3'