Canonical Allele Identifier: CA2591318641
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760253883
gnomAD v3: 6-6145135-C-T
gnomAD v4: 6-6145135-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145135C>T , CM000668.2:g.6145135C>T GRCh38
NC_000006.11:g.6145368C>T , CM000668.1:g.6145368C>T GRCh37
NC_000006.10:g.6090367C>T NCBI36
NG_008107.1:g.180557G>A , LRG_549:g.180557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*484G>A MANE Select ENSP00000264870.3:n.*484G>A
ENST00000264870.7:c.*484G>A ENSP00000264870.3:n.*484G>A
NM_000129.3:c.*484G>A , LRG_549t1:c.*484G>A NP_000120.2:n.*484G>A
XM_006715010.2:c.*484G>A XP_006715073.1:n.*484G>A
XM_011514342.1:c.*484G>A XP_011512644.1:n.*484G>A
NM_000129.4:c.*484G>A MANE Select NP_000120.2:n.*484G>A
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