Canonical Allele Identifier: CA362737306
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182026C>A , CM000668.2:g.6182026C>A GRCh38
NC_000006.11:g.6182259C>A , CM000668.1:g.6182259C>A GRCh37
NC_000006.10:g.6127258C>A NCBI36
NG_008107.1:g.143666G>T , LRG_549:g.143666G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1421G>T MANE Select ENSP00000264870.3:p.Gly474Val
ENST00000264870.7:c.1421G>T ENSP00000264870.3:p.Gly474Val
NM_000129.3:c.1421G>T , LRG_549t1:c.1421G>T NP_000120.2:p.Gly474Val
XM_006715010.2:c.1421G>T XP_006715073.1:p.Gly474Val
XM_011514342.1:c.1583G>T XP_011512644.1:p.Gly528Val
NM_000129.4:c.1421G>T MANE Select NP_000120.2:p.Gly474Val