Canonical Allele Identifier: CA12179055
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs3024409
gnomAD v2: 6-6223294-C-A
gnomAD v3: 6-6223061-C-A
gnomAD v4: 6-6223061-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6223061C>A , CM000668.2:g.6223061C>A GRCh38
NC_000006.11:g.6223294C>A , CM000668.1:g.6223294C>A GRCh37
NC_000006.10:g.6168293C>A NCBI36
NG_008107.1:g.102631G>T , LRG_549:g.102631G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.974-890G>T MANE Select ENSP00000264870.3:n.974-890G>T
ENST00000264870.7:c.974-890G>T ENSP00000264870.3:n.974-890G>T
ENST00000445223.1:c.124-890G>T
NM_000129.3:c.974-890G>T , LRG_549t1:c.974-890G>T NP_000120.2:n.974-890G>T
XM_006715010.2:c.974-890G>T XP_006715073.1:n.974-890G>T
XM_011514342.1:c.1136-890G>T XP_011512644.1:n.1136-890G>T
NM_000129.4:c.974-890G>T MANE Select NP_000120.2:n.974-890G>T