Canonical Allele Identifier: CA2677189371
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145275-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145275T>G , CM000668.2:g.6145275T>G GRCh38
NC_000006.11:g.6145508T>G , CM000668.1:g.6145508T>G GRCh37
NC_000006.10:g.6090507T>G NCBI36
NG_008107.1:g.180417A>C , LRG_549:g.180417A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*344A>C MANE Select ENSP00000264870.3:n.*344A>C
ENST00000264870.7:c.*344A>C ENSP00000264870.3:n.*344A>C
NM_000129.3:c.*344A>C , LRG_549t1:c.*344A>C NP_000120.2:n.*344A>C
XM_006715010.2:c.*344A>C XP_006715073.1:n.*344A>C
XM_011514342.1:c.*344A>C XP_011512644.1:n.*344A>C
NM_000129.4:c.*344A>C MANE Select NP_000120.2:n.*344A>C
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