Canonical Allele Identifier: CA362740124
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224814T>G , CM000668.2:g.6224814T>G GRCh38
NC_000006.11:g.6225047T>G , CM000668.1:g.6225047T>G GRCh37
NC_000006.10:g.6170046T>G NCBI36
NG_008107.1:g.100878A>C , LRG_549:g.100878A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.845A>C MANE Select ENSP00000264870.3:p.Asn282Thr
ENST00000264870.7:c.845A>C ENSP00000264870.3:p.Asn282Thr
NM_000129.3:c.845A>C , LRG_549t1:c.845A>C NP_000120.2:p.Asn282Thr
XM_006715010.2:c.845A>C XP_006715073.1:p.Asn282Thr
XM_011514342.1:c.1007A>C XP_011512644.1:p.Asn336Thr
NM_000129.4:c.845A>C MANE Select NP_000120.2:p.Asn282Thr