Canonical Allele Identifier: CA556915
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs201060679
ExAC: 1:6204077 G / A
gnomAD v2: 1-6204077-G-A
gnomAD v3: 1-6144017-G-A
gnomAD v4: 1-6144017-G-A
MyVariant Identifiers: chr1:g.6204077G>A (hg19) chr1:g.6144017G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6144017G>A , CM000663.2:g.6144017G>A GRCh38
NC_000001.10:g.6204077G>A , CM000663.1:g.6204077G>A GRCh37
NC_000001.9:g.6126664G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.1934+7C>T MANE Select ENSP00000262450.3:n.1934+7C>T
ENST00000262450.7:c.1934+7C>T ENSP00000262450.3:n.1934+7C>T
ENST00000462991.5:c.81+7C>T
ENST00000496404.1:c.1934+7C>T ENSP00000433676.1:n.1934+7C>T
NM_015557.2:c.1934+7C>T NP_056372.1:n.1934+7C>T
NM_015557.3:c.1934+7C>T MANE Select NP_056372.1:n.1934+7C>T
Search 100 bp 5'
Search 100 bp 3'