Canonical Allele Identifier: CA2578522131
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6182147-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182147A>G , CM000668.2:g.6182147A>G GRCh38
NC_000006.11:g.6182380A>G , CM000668.1:g.6182380A>G GRCh37
NC_000006.10:g.6127379A>G NCBI36
NG_008107.1:g.143545T>C , LRG_549:g.143545T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1306-6T>C MANE Select ENSP00000264870.3:n.1306-6T>C
ENST00000264870.7:c.1306-6T>C ENSP00000264870.3:n.1306-6T>C
NM_000129.3:c.1306-6T>C , LRG_549t1:c.1306-6T>C NP_000120.2:n.1306-6T>C
XM_006715010.2:c.1306-6T>C XP_006715073.1:n.1306-6T>C
XM_011514342.1:c.1468-6T>C XP_011512644.1:n.1468-6T>C
NM_000129.4:c.1306-6T>C MANE Select NP_000120.2:n.1306-6T>C
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