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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:
CA380182208
Gene: ALX4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr11:g.44296936G>C (hg19)
chr11:g.44275386G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.44275386G>C , CM000673.2:g.44275386G>C
GRCh38
NC_000011.9:g.44296936G>C , CM000673.1:g.44296936G>C
GRCh37
NC_000011.8:g.44253512G>C
NCBI36
NG_015809.1:g.39781C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000652299.1:c.739C>G
MANE Select
ENSP00000498217.1:p.Leu247Val
ENST00000329255.3:c.739C>G
ENSP00000332744.3:p.Leu247Val
NM_021926.3:c.739C>G
NP_068745.2:p.Leu247Val
XM_011520264.1:c.739C>G
XP_011518566.1:p.Leu247Val
XM_011520265.1:c.217C>G
XP_011518567.1:p.Leu73Val
XM_011520266.1:c.217C>G
XP_011518568.1:p.Leu73Val
NM_021926.4:c.739C>G
MANE Select
NP_068745.2:p.Leu247Val
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