Canonical Allele Identifier: CA362739920
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6224949A>G (hg19) chr6:g.6224716A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224716A>G , CM000668.2:g.6224716A>G GRCh38
NC_000006.11:g.6224949A>G , CM000668.1:g.6224949A>G GRCh37
NC_000006.10:g.6169948A>G NCBI36
NG_008107.1:g.100976T>C , LRG_549:g.100976T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.943T>C MANE Select ENSP00000264870.3:p.Cys315Arg
ENST00000264870.7:c.943T>C ENSP00000264870.3:p.Cys315Arg
ENST00000445223.1:c.93T>C
NM_000129.3:c.943T>C , LRG_549t1:c.943T>C NP_000120.2:p.Cys315Arg
XM_006715010.2:c.943T>C XP_006715073.1:p.Cys315Arg
XM_011514342.1:c.1105T>C XP_011512644.1:p.Cys369Arg
NM_000129.4:c.943T>C MANE Select NP_000120.2:p.Cys315Arg
Search 100 bp 5'
Search 100 bp 3'