Canonical Allele Identifier: CA362737707
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6182362G>T (hg19) chr6:g.6182129G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182129G>T , CM000668.2:g.6182129G>T GRCh38
NC_000006.11:g.6182362G>T , CM000668.1:g.6182362G>T GRCh37
NC_000006.10:g.6127361G>T NCBI36
NG_008107.1:g.143563C>A , LRG_549:g.143563C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1318C>A MANE Select ENSP00000264870.3:p.Leu440Ile
ENST00000264870.7:c.1318C>A ENSP00000264870.3:p.Leu440Ile
NM_000129.3:c.1318C>A , LRG_549t1:c.1318C>A NP_000120.2:p.Leu440Ile
XM_006715010.2:c.1318C>A XP_006715073.1:p.Leu440Ile
XM_011514342.1:c.1480C>A XP_011512644.1:p.Leu494Ile
NM_000129.4:c.1318C>A MANE Select NP_000120.2:p.Leu440Ile
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