Canonical Allele Identifier: CA362740427
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248395A>G , CM000668.2:g.6248395A>G GRCh38
NC_000006.11:g.6248628A>G , CM000668.1:g.6248628A>G GRCh37
NC_000006.10:g.6193627A>G NCBI36
NG_008107.1:g.77297T>C , LRG_549:g.77297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.715T>C MANE Select ENSP00000264870.3:p.Cys239Arg
ENST00000264870.7:c.715T>C ENSP00000264870.3:p.Cys239Arg
NM_000129.3:c.715T>C , LRG_549t1:c.715T>C NP_000120.2:p.Cys239Arg
XM_006715010.2:c.715T>C XP_006715073.1:p.Cys239Arg
XM_011514342.1:c.877T>C XP_011512644.1:p.Cys293Arg
NM_000129.4:c.715T>C MANE Select NP_000120.2:p.Cys239Arg