Canonical Allele Identifier: CA362739932

Gene: F13A1

Linked Data

• COSMIC: COSM1205919
• MyVariant Identifiers: chr6:g.6224954C>T (hg19) ; chr6:g.6224721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6224721C>T , CM000668.2:g.6224721C>T	GRCh38
NC_000006.11:g.6224954C>T , CM000668.1:g.6224954C>T	GRCh37
NC_000006.10:g.6169953C>T	NCBI36
NG_008107.1:g.100971G>A , LRG_549:g.100971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.938G>A MANE Select	ENSP00000264870.3:p.Gly313Asp
ENST00000264870.7:c.938G>A	ENSP00000264870.3:p.Gly313Asp
ENST00000445223.1:c.88G>A
NM_000129.3:c.938G>A , LRG_549t1:c.938G>A	NP_000120.2:p.Gly313Asp
XM_006715010.2:c.938G>A	XP_006715073.1:p.Gly313Asp
XM_011514342.1:c.1100G>A	XP_011512644.1:p.Gly367Asp
NM_000129.4:c.938G>A MANE Select	NP_000120.2:p.Gly313Asp