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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA338081335
Gene: CHD5
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.6204084C>A (hg19)
chr1:g.6144024C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.6144024C>A , CM000663.2:g.6144024C>A
GRCh38
NC_000001.10:g.6204084C>A , CM000663.1:g.6204084C>A
GRCh37
NC_000001.9:g.6126671C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000262450.8:c.1934G>T
MANE Select
ENSP00000262450.3:p.Arg645Met
ENST00000262450.7:c.1934G>T
ENSP00000262450.3:p.Arg645Met
ENST00000462991.5:c.81G>T
ENST00000496404.1:c.1934G>T
ENSP00000433676.1:p.Arg645Met
NM_015557.2:c.1934G>T
NP_056372.1:p.Arg645Met
NM_015557.3:c.1934G>T
MANE Select
NP_056372.1:p.Arg645Met
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