Canonical Allele Identifier: CA362739903
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6224943C>G (hg19) chr6:g.6224710C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224710C>G , CM000668.2:g.6224710C>G GRCh38
NC_000006.11:g.6224943C>G , CM000668.1:g.6224943C>G GRCh37
NC_000006.10:g.6169942C>G NCBI36
NG_008107.1:g.100982G>C , LRG_549:g.100982G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.949G>C MANE Select ENSP00000264870.3:p.Val317Leu
ENST00000264870.7:c.949G>C ENSP00000264870.3:p.Val317Leu
ENST00000445223.1:c.99G>C
NM_000129.3:c.949G>C , LRG_549t1:c.949G>C NP_000120.2:p.Val317Leu
XM_006715010.2:c.949G>C XP_006715073.1:p.Val317Leu
XM_011514342.1:c.1111G>C XP_011512644.1:p.Val371Leu
NM_000129.4:c.949G>C MANE Select NP_000120.2:p.Val317Leu
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