Canonical Allele Identifier: CA362740292
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6248568C>A (hg19) chr6:g.6248335C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248335C>A , CM000668.2:g.6248335C>A GRCh38
NC_000006.11:g.6248568C>A , CM000668.1:g.6248568C>A GRCh37
NC_000006.10:g.6193567C>A NCBI36
NG_008107.1:g.77357G>T , LRG_549:g.77357G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.775G>T MANE Select ENSP00000264870.3:p.Val259Phe
ENST00000264870.7:c.775G>T ENSP00000264870.3:p.Val259Phe
NM_000129.3:c.775G>T , LRG_549t1:c.775G>T NP_000120.2:p.Val259Phe
XM_006715010.2:c.775G>T XP_006715073.1:p.Val259Phe
XM_011514342.1:c.937G>T XP_011512644.1:p.Val313Phe
NM_000129.4:c.775G>T MANE Select NP_000120.2:p.Val259Phe
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