Canonical Allele Identifier: CA362739912
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224713A>G , CM000668.2:g.6224713A>G GRCh38
NC_000006.11:g.6224946A>G , CM000668.1:g.6224946A>G GRCh37
NC_000006.10:g.6169945A>G NCBI36
NG_008107.1:g.100979T>C , LRG_549:g.100979T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.946T>C MANE Select ENSP00000264870.3:p.Trp316Arg
ENST00000264870.7:c.946T>C ENSP00000264870.3:p.Trp316Arg
ENST00000445223.1:c.96T>C
NM_000129.3:c.946T>C , LRG_549t1:c.946T>C NP_000120.2:p.Trp316Arg
XM_006715010.2:c.946T>C XP_006715073.1:p.Trp316Arg
XM_011514342.1:c.1108T>C XP_011512644.1:p.Trp370Arg
NM_000129.4:c.946T>C MANE Select NP_000120.2:p.Trp316Arg