Canonical Allele Identifier: CA362740166
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224833G>C , CM000668.2:g.6224833G>C GRCh38
NC_000006.11:g.6225066G>C , CM000668.1:g.6225066G>C GRCh37
NC_000006.10:g.6170065G>C NCBI36
NG_008107.1:g.100859C>G , LRG_549:g.100859C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.826C>G MANE Select ENSP00000264870.3:p.Leu276Val
ENST00000264870.7:c.826C>G ENSP00000264870.3:p.Leu276Val
NM_000129.3:c.826C>G , LRG_549t1:c.826C>G NP_000120.2:p.Leu276Val
XM_006715010.2:c.826C>G XP_006715073.1:p.Leu276Val
XM_011514342.1:c.988C>G XP_011512644.1:p.Leu330Val
NM_000129.4:c.826C>G MANE Select NP_000120.2:p.Leu276Val