Canonical Allele Identifier: CA448645804
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6224941A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224708A>G , CM000668.2:g.6224708A>G GRCh38
NC_000006.11:g.6224941A>G , CM000668.1:g.6224941A>G GRCh37
NC_000006.10:g.6169940A>G NCBI36
NG_008107.1:g.100984T>C , LRG_549:g.100984T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.951T>C MANE Select ENSP00000264870.3:p.Val317=
ENST00000264870.7:c.951T>C ENSP00000264870.3:p.Val317=
ENST00000445223.1:c.101T>C
NM_000129.3:c.951T>C , LRG_549t1:c.951T>C NP_000120.2:p.Val317=
XM_006715010.2:c.951T>C XP_006715073.1:p.Val317=
XM_011514342.1:c.1113T>C XP_011512644.1:p.Val371=
NM_000129.4:c.951T>C MANE Select NP_000120.2:p.Val317=