Canonical Allele Identifier: CA362655908
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145665-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145665A>T , CM000668.2:g.6145665A>T GRCh38
NC_000006.11:g.6145898A>T , CM000668.1:g.6145898A>T GRCh37
NC_000006.10:g.6090897A>T NCBI36
NG_008107.1:g.180027T>A , LRG_549:g.180027T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2153T>A MANE Select ENSP00000264870.3:p.Val718Glu
ENST00000264870.7:c.2153T>A ENSP00000264870.3:p.Val718Glu
NM_000129.3:c.2153T>A , LRG_549t1:c.2153T>A NP_000120.2:p.Val718Glu
XM_006715010.2:c.2153T>A XP_006715073.1:p.Val718Glu
XM_011514342.1:c.2315T>A XP_011512644.1:p.Val772Glu
NM_000129.4:c.2153T>A MANE Select NP_000120.2:p.Val718Glu