Canonical Allele Identifier: CA565087314
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1393013723
gnomAD v2: 6-6145694-T-C
gnomAD v3: 6-6145461-T-C
gnomAD v4: 6-6145461-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145461T>C , CM000668.2:g.6145461T>C GRCh38
NC_000006.11:g.6145694T>C , CM000668.1:g.6145694T>C GRCh37
NC_000006.10:g.6090693T>C NCBI36
NG_008107.1:g.180231A>G , LRG_549:g.180231A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*158A>G MANE Select ENSP00000264870.3:n.*158A>G
ENST00000264870.7:c.*158A>G ENSP00000264870.3:n.*158A>G
NM_000129.3:c.*158A>G , LRG_549t1:c.*158A>G NP_000120.2:n.*158A>G
XM_006715010.2:c.*158A>G XP_006715073.1:n.*158A>G
XM_011514342.1:c.*158A>G XP_011512644.1:n.*158A>G
NM_000129.4:c.*158A>G MANE Select NP_000120.2:n.*158A>G