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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:
CA133891316
Gene: F13A1
HGNC
NCBI
Linked Data
dbSNP Id:
rs996280220
gnomAD v2:
6-6144926-G-A
gnomAD v3:
6-6144693-G-A
gnomAD v4:
6-6144693-G-A
MyVariant Identifiers:
chr6:g.6144926G>A (hg19)
chr6:g.6144693G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.6144693G>A , CM000668.2:g.6144693G>A
GRCh38
NC_000006.11:g.6144926G>A , CM000668.1:g.6144926G>A
GRCh37
NC_000006.10:g.6089925G>A
NCBI36
NG_008107.1:g.180999C>T , LRG_549:g.180999C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000264870.8:c.*926C>T
MANE Select
ENSP00000264870.3:n.*926C>T
ENST00000264870.7:c.*926C>T
ENSP00000264870.3:n.*926C>T
NM_000129.3:c.*926C>T , LRG_549t1:c.*926C>T
NP_000120.2:n.*926C>T
XM_006715010.2:c.*926C>T
XP_006715073.1:n.*926C>T
XM_011514342.1:c.*926C>T
XP_011512644.1:n.*926C>T
NM_000129.4:c.*926C>T
MANE Select
NP_000120.2:n.*926C>T
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