Canonical Allele Identifier: CA2677189152
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145145-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145145A>T , CM000668.2:g.6145145A>T GRCh38
NC_000006.11:g.6145378A>T , CM000668.1:g.6145378A>T GRCh37
NC_000006.10:g.6090377A>T NCBI36
NG_008107.1:g.180547T>A , LRG_549:g.180547T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*474T>A MANE Select ENSP00000264870.3:n.*474T>A
ENST00000264870.7:c.*474T>A ENSP00000264870.3:n.*474T>A
NM_000129.3:c.*474T>A , LRG_549t1:c.*474T>A NP_000120.2:n.*474T>A
XM_006715010.2:c.*474T>A XP_006715073.1:n.*474T>A
XM_011514342.1:c.*474T>A XP_011512644.1:n.*474T>A
NM_000129.4:c.*474T>A MANE Select NP_000120.2:n.*474T>A
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