Canonical Allele Identifier: CA2769871542

Gene: F13A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6318451G>A , CM000668.2:g.6318451G>A	GRCh38
NC_000006.11:g.6318684G>A , CM000668.1:g.6318684G>A	GRCh37
NC_000006.10:g.6263683G>A	NCBI36
NG_008107.1:g.7241C>T , LRG_549:g.7241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.130+84C>T MANE Select	ENSP00000264870.3:n.130+84C>T
ENST00000264870.7:c.130+84C>T	ENSP00000264870.3:n.130+84C>T
ENST00000414279.5:c.130+84C>T	ENSP00000413334.1:n.130+84C>T
ENST00000431222.6:c.292+84C>T	ENSP00000416295.2:n.292+84C>T
ENST00000451619.1:c.204+84C>T
NM_000129.3:c.130+84C>T , LRG_549t1:c.130+84C>T	NP_000120.2:n.130+84C>T
XM_006715010.2:c.130+84C>T	XP_006715073.1:n.130+84C>T
XM_011514342.1:c.292+84C>T	XP_011512644.1:n.292+84C>T
NM_000129.4:c.130+84C>T MANE Select	NP_000120.2:n.130+84C>T