Canonical Allele Identifier: CA362740152
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224826-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224826C>G , CM000668.2:g.6224826C>G GRCh38
NC_000006.11:g.6225059C>G , CM000668.1:g.6225059C>G GRCh37
NC_000006.10:g.6170058C>G NCBI36
NG_008107.1:g.100866G>C , LRG_549:g.100866G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.833G>C MANE Select ENSP00000264870.3:p.Gly278Ala
ENST00000264870.7:c.833G>C ENSP00000264870.3:p.Gly278Ala
NM_000129.3:c.833G>C , LRG_549t1:c.833G>C NP_000120.2:p.Gly278Ala
XM_006715010.2:c.833G>C XP_006715073.1:p.Gly278Ala
XM_011514342.1:c.995G>C XP_011512644.1:p.Gly332Ala
NM_000129.4:c.833G>C MANE Select NP_000120.2:p.Gly278Ala