Canonical Allele Identifier: CA362740117
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6224811-A-T
MyVariant Identifiers: chr6:g.6225044A>T (hg19) chr6:g.6224811A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224811A>T , CM000668.2:g.6224811A>T GRCh38
NC_000006.11:g.6225044A>T , CM000668.1:g.6225044A>T GRCh37
NC_000006.10:g.6170043A>T NCBI36
NG_008107.1:g.100881T>A , LRG_549:g.100881T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.848T>A MANE Select ENSP00000264870.3:p.Ile283Asn
ENST00000264870.7:c.848T>A ENSP00000264870.3:p.Ile283Asn
NM_000129.3:c.848T>A , LRG_549t1:c.848T>A NP_000120.2:p.Ile283Asn
XM_006715010.2:c.848T>A XP_006715073.1:p.Ile283Asn
XM_011514342.1:c.1010T>A XP_011512644.1:p.Ile337Asn
NM_000129.4:c.848T>A MANE Select NP_000120.2:p.Ile283Asn
Search 100 bp 5'
Search 100 bp 3'