Canonical Allele Identifier: CA362739918
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6224948C>T (hg19) chr6:g.6224715C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224715C>T , CM000668.2:g.6224715C>T GRCh38
NC_000006.11:g.6224948C>T , CM000668.1:g.6224948C>T GRCh37
NC_000006.10:g.6169947C>T NCBI36
NG_008107.1:g.100977G>A , LRG_549:g.100977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.944G>A MANE Select ENSP00000264870.3:p.Cys315Tyr
ENST00000264870.7:c.944G>A ENSP00000264870.3:p.Cys315Tyr
ENST00000445223.1:c.94G>A
NM_000129.3:c.944G>A , LRG_549t1:c.944G>A NP_000120.2:p.Cys315Tyr
XM_006715010.2:c.944G>A XP_006715073.1:p.Cys315Tyr
XM_011514342.1:c.1106G>A XP_011512644.1:p.Cys369Tyr
NM_000129.4:c.944G>A MANE Select NP_000120.2:p.Cys315Tyr
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