Canonical Allele Identifier: CA2591318640
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs2151066377
gnomAD v3: 6-6145130-C-G
gnomAD v4: 6-6145130-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145130C>G , CM000668.2:g.6145130C>G GRCh38
NC_000006.11:g.6145363C>G , CM000668.1:g.6145363C>G GRCh37
NC_000006.10:g.6090362C>G NCBI36
NG_008107.1:g.180562G>C , LRG_549:g.180562G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*489G>C MANE Select ENSP00000264870.3:n.*489G>C
ENST00000264870.7:c.*489G>C ENSP00000264870.3:n.*489G>C
NM_000129.3:c.*489G>C , LRG_549t1:c.*489G>C NP_000120.2:n.*489G>C
XM_006715010.2:c.*489G>C XP_006715073.1:n.*489G>C
XM_011514342.1:c.*489G>C XP_011512644.1:n.*489G>C
NM_000129.4:c.*489G>C MANE Select NP_000120.2:n.*489G>C
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