Canonical Allele Identifier: CA10624494
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357656
ClinVar RCV Id: RCV000268274
dbSNP Id: rs191569585
gnomAD v2: 6-6145233-G-A
gnomAD v3: 6-6145000-G-A
gnomAD v4: 6-6145000-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145000G>A , CM000668.2:g.6145000G>A GRCh38
NC_000006.11:g.6145233G>A , CM000668.1:g.6145233G>A GRCh37
NC_000006.10:g.6090232G>A NCBI36
NG_008107.1:g.180692C>T , LRG_549:g.180692C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*619C>T MANE Select ENSP00000264870.3:n.*619C>T
ENST00000264870.7:c.*619C>T ENSP00000264870.3:n.*619C>T
NM_000129.3:c.*619C>T , LRG_549t1:c.*619C>T NP_000120.2:n.*619C>T
XM_006715010.2:c.*619C>T XP_006715073.1:n.*619C>T
XM_011514342.1:c.*619C>T XP_011512644.1:n.*619C>T
NM_000129.4:c.*619C>T MANE Select NP_000120.2:n.*619C>T