Canonical Allele Identifier: CA10627390
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357662
dbSNP Id: rs1050783
gnomAD v2: 6-6145692-C-T
gnomAD v3: 6-6145459-C-T
gnomAD v4: 6-6145459-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145459C>T , CM000668.2:g.6145459C>T GRCh38
NC_000006.11:g.6145692C>T , CM000668.1:g.6145692C>T GRCh37
NC_000006.10:g.6090691C>T NCBI36
NG_008107.1:g.180233G>A , LRG_549:g.180233G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*160G>A MANE Select ENSP00000264870.3:n.*160G>A
ENST00000264870.7:c.*160G>A ENSP00000264870.3:n.*160G>A
NM_000129.3:c.*160G>A , LRG_549t1:c.*160G>A NP_000120.2:n.*160G>A
XM_006715010.2:c.*160G>A XP_006715073.1:n.*160G>A
XM_011514342.1:c.*160G>A XP_011512644.1:n.*160G>A
NM_000129.4:c.*160G>A MANE Select NP_000120.2:n.*160G>A