Canonical Allele Identifier: CA362737698
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182126T>G , CM000668.2:g.6182126T>G GRCh38
NC_000006.11:g.6182359T>G , CM000668.1:g.6182359T>G GRCh37
NC_000006.10:g.6127358T>G NCBI36
NG_008107.1:g.143566A>C , LRG_549:g.143566A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1321A>C MANE Select ENSP00000264870.3:p.Ile441Leu
ENST00000264870.7:c.1321A>C ENSP00000264870.3:p.Ile441Leu
NM_000129.3:c.1321A>C , LRG_549t1:c.1321A>C NP_000120.2:p.Ile441Leu
XM_006715010.2:c.1321A>C XP_006715073.1:p.Ile441Leu
XM_011514342.1:c.1483A>C XP_011512644.1:p.Ile495Leu
NM_000129.4:c.1321A>C MANE Select NP_000120.2:p.Ile441Leu