Canonical Allele Identifier: CA2677189295
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145229-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145229A>C , CM000668.2:g.6145229A>C GRCh38
NC_000006.11:g.6145462A>C , CM000668.1:g.6145462A>C GRCh37
NC_000006.10:g.6090461A>C NCBI36
NG_008107.1:g.180463T>G , LRG_549:g.180463T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*390T>G MANE Select ENSP00000264870.3:n.*390T>G
ENST00000264870.7:c.*390T>G ENSP00000264870.3:n.*390T>G
NM_000129.3:c.*390T>G , LRG_549t1:c.*390T>G NP_000120.2:n.*390T>G
XM_006715010.2:c.*390T>G XP_006715073.1:n.*390T>G
XM_011514342.1:c.*390T>G XP_011512644.1:n.*390T>G
NM_000129.4:c.*390T>G MANE Select NP_000120.2:n.*390T>G