Canonical Allele Identifier: CA2677191666
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224866-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224866T>G , CM000668.2:g.6224866T>G GRCh38
NC_000006.11:g.6225099T>G , CM000668.1:g.6225099T>G GRCh37
NC_000006.10:g.6170098T>G NCBI36
NG_008107.1:g.100826A>C , LRG_549:g.100826A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.799-6A>C MANE Select ENSP00000264870.3:n.799-6A>C
ENST00000264870.7:c.799-6A>C ENSP00000264870.3:n.799-6A>C
NM_000129.3:c.799-6A>C , LRG_549t1:c.799-6A>C NP_000120.2:n.799-6A>C
XM_006715010.2:c.799-6A>C XP_006715073.1:n.799-6A>C
XM_011514342.1:c.961-6A>C XP_011512644.1:n.961-6A>C
NM_000129.4:c.799-6A>C MANE Select NP_000120.2:n.799-6A>C