Canonical Allele Identifier: CA448498453
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6145864T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145631T>C , CM000668.2:g.6145631T>C GRCh38
NC_000006.11:g.6145864T>C , CM000668.1:g.6145864T>C GRCh37
NC_000006.10:g.6090863T>C NCBI36
NG_008107.1:g.180061A>G , LRG_549:g.180061A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.2187A>G MANE Select ENSP00000264870.3:p.Arg729=
ENST00000264870.7:c.2187A>G ENSP00000264870.3:p.Arg729=
NM_000129.3:c.2187A>G , LRG_549t1:c.2187A>G NP_000120.2:p.Arg729=
XM_006715010.2:c.2187A>G XP_006715073.1:p.Arg729=
XM_011514342.1:c.2349A>G XP_011512644.1:p.Arg783=
NM_000129.4:c.2187A>G MANE Select NP_000120.2:p.Arg729=