Canonical Allele Identifier: CA362655876
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145650T>A , CM000668.2:g.6145650T>A GRCh38
NC_000006.11:g.6145883T>A , CM000668.1:g.6145883T>A GRCh37
NC_000006.10:g.6090882T>A NCBI36
NG_008107.1:g.180042A>T , LRG_549:g.180042A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2168A>T MANE Select ENSP00000264870.3:p.Asp723Val
ENST00000264870.7:c.2168A>T ENSP00000264870.3:p.Asp723Val
NM_000129.3:c.2168A>T , LRG_549t1:c.2168A>T NP_000120.2:p.Asp723Val
XM_006715010.2:c.2168A>T XP_006715073.1:p.Asp723Val
XM_011514342.1:c.2330A>T XP_011512644.1:p.Asp777Val
NM_000129.4:c.2168A>T MANE Select NP_000120.2:p.Asp723Val