Canonical Allele Identifier: CA2740087147
Gene: F13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6317893A>T , CM000668.2:g.6317893A>T GRCh38
NC_000006.11:g.6318126A>T , CM000668.1:g.6318126A>T GRCh37
NC_000006.10:g.6263125A>T NCBI36
NG_008107.1:g.7799T>A , LRG_549:g.7799T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.130+642T>A MANE Select ENSP00000264870.3:n.130+642T>A
ENST00000264870.7:c.130+642T>A ENSP00000264870.3:n.130+642T>A
ENST00000414279.5:c.130+642T>A ENSP00000413334.1:n.130+642T>A
ENST00000431222.6:c.292+642T>A ENSP00000416295.2:n.292+642T>A
ENST00000451619.1:c.204+642T>A
NM_000129.3:c.130+642T>A , LRG_549t1:c.130+642T>A NP_000120.2:n.130+642T>A
XM_006715010.2:c.130+642T>A XP_006715073.1:n.130+642T>A
XM_011514342.1:c.292+642T>A XP_011512644.1:n.292+642T>A
NM_000129.4:c.130+642T>A MANE Select NP_000120.2:n.130+642T>A