Canonical Allele Identifier: CA2547179159
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6144941-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6144941G>T , CM000668.2:g.6144941G>T GRCh38
NC_000006.11:g.6145174G>T , CM000668.1:g.6145174G>T GRCh37
NC_000006.10:g.6090173G>T NCBI36
NG_008107.1:g.180751C>A , LRG_549:g.180751C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*678C>A MANE Select ENSP00000264870.3:n.*678C>A
ENST00000264870.7:c.*678C>A ENSP00000264870.3:n.*678C>A
NM_000129.3:c.*678C>A , LRG_549t1:c.*678C>A NP_000120.2:n.*678C>A
XM_006715010.2:c.*678C>A XP_006715073.1:n.*678C>A
XM_011514342.1:c.*678C>A XP_011512644.1:n.*678C>A
NM_000129.4:c.*678C>A MANE Select NP_000120.2:n.*678C>A
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