Canonical Allele Identifier: CA362655907
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2153T>G MANE Select ENSP00000264870.3:p.Val718Gly
ENST00000264870.7:c.2153T>G ENSP00000264870.3:p.Val718Gly
NM_000129.3:c.2153T>G , LRG_549t1:c.2153T>G NP_000120.2:p.Val718Gly
XM_006715010.2:c.2153T>G XP_006715073.1:p.Val718Gly
XM_011514342.1:c.2315T>G XP_011512644.1:p.Val772Gly
NM_000129.4:c.2153T>G MANE Select NP_000120.2:p.Val718Gly