Canonical Allele Identifier: CA362655861
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145642-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145642T>C , CM000668.2:g.6145642T>C GRCh38
NC_000006.11:g.6145875T>C , CM000668.1:g.6145875T>C GRCh37
NC_000006.10:g.6090874T>C NCBI36
NG_008107.1:g.180050A>G , LRG_549:g.180050A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2176A>G MANE Select ENSP00000264870.3:p.Ile726Val
ENST00000264870.7:c.2176A>G ENSP00000264870.3:p.Ile726Val
NM_000129.3:c.2176A>G , LRG_549t1:c.2176A>G NP_000120.2:p.Ile726Val
XM_006715010.2:c.2176A>G XP_006715073.1:p.Ile726Val
XM_011514342.1:c.2338A>G XP_011512644.1:p.Ile780Val
NM_000129.4:c.2176A>G MANE Select NP_000120.2:p.Ile726Val