Canonical Allele Identifier: CA1085641416
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1758136405
gnomAD v3: 6-6286110-G-T
gnomAD v4: 6-6286110-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6286110G>T , CM000668.2:g.6286110G>T GRCh38
NC_000006.11:g.6286343G>T , CM000668.1:g.6286343G>T GRCh37
NC_000006.10:g.6231342G>T NCBI36
NG_008107.1:g.39582C>A , LRG_549:g.39582C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.319+19241C>A MANE Select ENSP00000264870.3:n.319+19241C>A
ENST00000264870.7:c.319+19241C>A ENSP00000264870.3:n.319+19241C>A
ENST00000414279.5:c.319+19241C>A ENSP00000413334.1:n.319+19241C>A
ENST00000431222.6:c.481+19241C>A ENSP00000416295.2:n.481+19241C>A
ENST00000479211.1:n.304+19241C>A
NM_000129.3:c.319+19241C>A , LRG_549t1:c.319+19241C>A NP_000120.2:n.319+19241C>A
XM_006715010.2:c.319+19241C>A XP_006715073.1:n.319+19241C>A
XM_011514342.1:c.481+19241C>A XP_011512644.1:n.481+19241C>A
NM_000129.4:c.319+19241C>A MANE Select NP_000120.2:n.319+19241C>A
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