Canonical Allele Identifier: CA2677191667
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224867-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224867G>A , CM000668.2:g.6224867G>A GRCh38
NC_000006.11:g.6225100G>A , CM000668.1:g.6225100G>A GRCh37
NC_000006.10:g.6170099G>A NCBI36
NG_008107.1:g.100825C>T , LRG_549:g.100825C>T

Transcript Alleles

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