Canonical Allele Identifier: CA362737190
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6181995G>T , CM000668.2:g.6181995G>T GRCh38
NC_000006.11:g.6182228G>T , CM000668.1:g.6182228G>T GRCh37
NC_000006.10:g.6127227G>T NCBI36
NG_008107.1:g.143697C>A , LRG_549:g.143697C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1452C>A MANE Select ENSP00000264870.3:p.Phe484Leu
ENST00000264870.7:c.1452C>A ENSP00000264870.3:p.Phe484Leu
NM_000129.3:c.1452C>A , LRG_549t1:c.1452C>A NP_000120.2:p.Phe484Leu
XM_006715010.2:c.1452C>A XP_006715073.1:p.Phe484Leu
XM_011514342.1:c.1614C>A XP_011512644.1:p.Phe538Leu
NM_000129.4:c.1452C>A MANE Select NP_000120.2:p.Phe484Leu