Canonical Allele Identifier: CA362737699
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182128A>T , CM000668.2:g.6182128A>T GRCh38
NC_000006.11:g.6182361A>T , CM000668.1:g.6182361A>T GRCh37
NC_000006.10:g.6127360A>T NCBI36
NG_008107.1:g.143564T>A , LRG_549:g.143564T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1319T>A MANE Select ENSP00000264870.3:p.Leu440His
ENST00000264870.7:c.1319T>A ENSP00000264870.3:p.Leu440His
NM_000129.3:c.1319T>A , LRG_549t1:c.1319T>A NP_000120.2:p.Leu440His
XM_006715010.2:c.1319T>A XP_006715073.1:p.Leu440His
XM_011514342.1:c.1481T>A XP_011512644.1:p.Leu494His
NM_000129.4:c.1319T>A MANE Select NP_000120.2:p.Leu440His