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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:
CA395119622
Gene: COG7
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr16:g.23428337C>G (hg19)
chr16:g.23417016C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.23417016C>G , CM000678.2:g.23417016C>G
GRCh38
NC_000016.9:g.23428337C>G , CM000678.1:g.23428337C>G
GRCh37
NC_000016.8:g.23335838C>G
NCBI36
NG_021287.1:g.41176G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000307149.10:c.1243G>C
MANE Select
ENSP00000305442.5:p.Gly415Arg
ENST00000307149.9:c.1243G>C
ENSP00000305442.5:p.Gly415Arg
ENST00000567821.1:n.278G>C
NM_153603.3:c.1243G>C
NP_705831.1:p.Gly415Arg
XR_429680.1:n.1459G>C
XM_017023870.1:c.1048G>C
XP_016879359.1:p.Gly350Arg
XR_002957852.1:n.1464G>C
XR_429680.2:n.1464G>C
NM_153603.4:c.1243G>C
MANE Select
NP_705831.1:p.Gly415Arg
Search 100 bp 5'
Search 100 bp 3'