Canonical Allele Identifier: CA362740275
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6248326-C-T
MyVariant Identifiers: chr6:g.6248559C>T (hg19) chr6:g.6248326C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248326C>T , CM000668.2:g.6248326C>T GRCh38
NC_000006.11:g.6248559C>T , CM000668.1:g.6248559C>T GRCh37
NC_000006.10:g.6193558C>T NCBI36
NG_008107.1:g.77366G>A , LRG_549:g.77366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.784G>A MANE Select ENSP00000264870.3:p.Val262Met
ENST00000264870.7:c.784G>A ENSP00000264870.3:p.Val262Met
NM_000129.3:c.784G>A , LRG_549t1:c.784G>A NP_000120.2:p.Val262Met
XM_006715010.2:c.784G>A XP_006715073.1:p.Val262Met
XM_011514342.1:c.946G>A XP_011512644.1:p.Val316Met
NM_000129.4:c.784G>A MANE Select NP_000120.2:p.Val262Met
Search 100 bp 5'
Search 100 bp 3'