Canonical Allele Identifier: CA1607987838
Gene: F13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224710C= , CM000668.2:g.6224710C= GRCh38
NC_000006.11:g.6224943C= , CM000668.1:g.6224943C= GRCh37
NC_000006.10:g.6169942C= NCBI36
NG_008107.1:g.100982G= , LRG_549:g.100982G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.949G= MANE Select ENSP00000264870.3:p.Val317=
ENST00000264870.7:c.949G= ENSP00000264870.3:p.Val317=
ENST00000445223.1:c.99G=
NM_000129.3:c.949G= , LRG_549t1:c.949G= NP_000120.2:p.Val317=
XM_006715010.2:c.949G= XP_006715073.1:p.Val317=
XM_011514342.1:c.1111G= XP_011512644.1:p.Val371=
NM_000129.4:c.949G= MANE Select NP_000120.2:p.Val317=