Canonical Allele Identifier: CA2578522419

Gene: F13A1

Linked Data

• gnomAD v4: 6-6318469-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6318469G>T , CM000668.2:g.6318469G>T	GRCh38
NC_000006.11:g.6318702G>T , CM000668.1:g.6318702G>T	GRCh37
NC_000006.10:g.6263701G>T	NCBI36
NG_008107.1:g.7223C>A , LRG_549:g.7223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.130+66C>A MANE Select	ENSP00000264870.3:n.130+66C>A
ENST00000264870.7:c.130+66C>A	ENSP00000264870.3:n.130+66C>A
ENST00000414279.5:c.130+66C>A	ENSP00000413334.1:n.130+66C>A
ENST00000431222.6:c.292+66C>A	ENSP00000416295.2:n.292+66C>A
ENST00000451619.1:c.204+66C>A
NM_000129.3:c.130+66C>A , LRG_549t1:c.130+66C>A	NP_000120.2:n.130+66C>A
XM_006715010.2:c.130+66C>A	XP_006715073.1:n.130+66C>A
XM_011514342.1:c.292+66C>A	XP_011512644.1:n.292+66C>A
NM_000129.4:c.130+66C>A MANE Select	NP_000120.2:n.130+66C>A