Canonical Allele Identifier: CA10627329
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357660
ClinVar RCV Id: RCV000328812
dbSNP Id: rs568780978
gnomAD v2: 6-6145582-G-A
gnomAD v3: 6-6145349-G-A
gnomAD v4: 6-6145349-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145349G>A , CM000668.2:g.6145349G>A GRCh38
NC_000006.11:g.6145582G>A , CM000668.1:g.6145582G>A GRCh37
NC_000006.10:g.6090581G>A NCBI36
NG_008107.1:g.180343C>T , LRG_549:g.180343C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*270C>T MANE Select ENSP00000264870.3:n.*270C>T
ENST00000264870.7:c.*270C>T ENSP00000264870.3:n.*270C>T
NM_000129.3:c.*270C>T , LRG_549t1:c.*270C>T NP_000120.2:n.*270C>T
XM_006715010.2:c.*270C>T XP_006715073.1:n.*270C>T
XM_011514342.1:c.*270C>T XP_011512644.1:n.*270C>T
NM_000129.4:c.*270C>T MANE Select NP_000120.2:n.*270C>T