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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:
CA343805936
Gene: FASLG
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.172634786C>A (hg19)
chr1:g.172665646C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.172665646C>A , CM000663.2:g.172665646C>A
GRCh38
NC_000001.10:g.172634786C>A , CM000663.1:g.172634786C>A
GRCh37
NC_000001.9:g.170901409C>A
NCBI36
NG_007269.1:g.11602C>A , LRG_58:g.11602C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000367721.3:c.476C>A
MANE Select
ENSP00000356694.2:p.Pro159His
ENST00000340030.4:c.*46C>A
ENSP00000344739.3:n.*46C>A
ENST00000367721.2:c.476C>A
ENSP00000356694.2:p.Pro159His
NM_000639.2:c.476C>A
NP_000630.1:p.Pro159His
NM_001302746.1:c.*46C>A
NP_001289675.1:n.*46C>A
NM_000639.3:c.476C>A
MANE Select
NP_000630.1:p.Pro159His
NM_001302746.2:c.*46C>A
NP_001289675.1:n.*46C>A
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