Canonical Allele Identifier: CA362740182
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224841T>G , CM000668.2:g.6224841T>G GRCh38
NC_000006.11:g.6225074T>G , CM000668.1:g.6225074T>G GRCh37
NC_000006.10:g.6170073T>G NCBI36
NG_008107.1:g.100851A>C , LRG_549:g.100851A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.818A>C MANE Select ENSP00000264870.3:p.Glu273Ala
ENST00000264870.7:c.818A>C ENSP00000264870.3:p.Glu273Ala
NM_000129.3:c.818A>C , LRG_549t1:c.818A>C NP_000120.2:p.Glu273Ala
XM_006715010.2:c.818A>C XP_006715073.1:p.Glu273Ala
XM_011514342.1:c.980A>C XP_011512644.1:p.Glu327Ala
NM_000129.4:c.818A>C MANE Select NP_000120.2:p.Glu273Ala