Canonical Allele Identifier: CA133891475
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1040540466
gnomAD v3: 6-6144944-T-C
gnomAD v4: 6-6144944-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6144944T>C , CM000668.2:g.6144944T>C GRCh38
NC_000006.11:g.6145177T>C , CM000668.1:g.6145177T>C GRCh37
NC_000006.10:g.6090176T>C NCBI36
NG_008107.1:g.180748A>G , LRG_549:g.180748A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*675A>G MANE Select ENSP00000264870.3:n.*675A>G
ENST00000264870.7:c.*675A>G ENSP00000264870.3:n.*675A>G
NM_000129.3:c.*675A>G , LRG_549t1:c.*675A>G NP_000120.2:n.*675A>G
XM_006715010.2:c.*675A>G XP_006715073.1:n.*675A>G
XM_011514342.1:c.*675A>G XP_011512644.1:n.*675A>G
NM_000129.4:c.*675A>G MANE Select NP_000120.2:n.*675A>G