Canonical Allele Identifier: CA362740383
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248376C>T , CM000668.2:g.6248376C>T GRCh38
NC_000006.11:g.6248609C>T , CM000668.1:g.6248609C>T GRCh37
NC_000006.10:g.6193608C>T NCBI36
NG_008107.1:g.77316G>A , LRG_549:g.77316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.734G>A MANE Select ENSP00000264870.3:p.Arg245Lys
ENST00000264870.7:c.734G>A ENSP00000264870.3:p.Arg245Lys
NM_000129.3:c.734G>A , LRG_549t1:c.734G>A NP_000120.2:p.Arg245Lys
XM_006715010.2:c.734G>A XP_006715073.1:p.Arg245Lys
XM_011514342.1:c.896G>A XP_011512644.1:p.Arg299Lys
NM_000129.4:c.734G>A MANE Select NP_000120.2:p.Arg245Lys