Canonical Allele Identifier: CA3624781
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357678
ClinVar RCV Id: RCV000279340
dbSNP Id: rs187027323
gnomAD v2: 6-6318796-G-A
gnomAD v3: 6-6318563-G-A
gnomAD v4: 6-6318563-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6318563G>A , CM000668.2:g.6318563G>A GRCh38
NC_000006.11:g.6318796G>A , CM000668.1:g.6318796G>A GRCh37
NC_000006.10:g.6263795G>A NCBI36
NG_008107.1:g.7129C>T , LRG_549:g.7129C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.102C>T MANE Select ENSP00000264870.3:p.Gly34=
ENST00000264870.7:c.102C>T ENSP00000264870.3:p.Gly34=
ENST00000414279.5:c.102C>T ENSP00000413334.1:p.Gly34=
ENST00000431222.6:c.264C>T ENSP00000416295.2:p.Gly88=
ENST00000451619.1:c.176C>T
NM_000129.3:c.102C>T , LRG_549t1:c.102C>T NP_000120.2:p.Gly34=
XM_006715010.2:c.102C>T XP_006715073.1:p.Gly34=
XM_011514342.1:c.264C>T XP_011512644.1:p.Gly88=
NM_000129.4:c.102C>T MANE Select NP_000120.2:p.Gly34=