Canonical Allele Identifier: CA10627391
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357663
ClinVar RCV Id: RCV000343622
dbSNP Id: rs1050782
gnomAD v2: 6-6145726-A-G
gnomAD v3: 6-6145493-A-G
gnomAD v4: 6-6145493-A-G
MyVariant Identifiers: chr6:g.6145726A>G (hg19) chr6:g.6145493A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145493A>G , CM000668.2:g.6145493A>G GRCh38
NC_000006.11:g.6145726A>G , CM000668.1:g.6145726A>G GRCh37
NC_000006.10:g.6090725A>G NCBI36
NG_008107.1:g.180199T>C , LRG_549:g.180199T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*126T>C MANE Select ENSP00000264870.3:n.*126T>C
ENST00000264870.7:c.*126T>C ENSP00000264870.3:n.*126T>C
NM_000129.3:c.*126T>C , LRG_549t1:c.*126T>C NP_000120.2:n.*126T>C
XM_006715010.2:c.*126T>C XP_006715073.1:n.*126T>C
XM_011514342.1:c.*126T>C XP_011512644.1:n.*126T>C
NM_000129.4:c.*126T>C MANE Select NP_000120.2:n.*126T>C
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