Canonical Allele Identifier: CA2591351698

Gene: F13A1

Linked Data

• dbSNP Id: rs1758136118
• gnomAD v3: 6-6286088-A-C
• gnomAD v4: 6-6286088-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6286088A>C , CM000668.2:g.6286088A>C	GRCh38
NC_000006.11:g.6286321A>C , CM000668.1:g.6286321A>C	GRCh37
NC_000006.10:g.6231320A>C	NCBI36
NG_008107.1:g.39604T>G , LRG_549:g.39604T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.319+19263T>G MANE Select	ENSP00000264870.3:n.319+19263T>G
ENST00000264870.7:c.319+19263T>G	ENSP00000264870.3:n.319+19263T>G
ENST00000414279.5:c.319+19263T>G	ENSP00000413334.1:n.319+19263T>G
ENST00000431222.6:c.481+19263T>G	ENSP00000416295.2:n.481+19263T>G
ENST00000479211.1:n.304+19263T>G
NM_000129.3:c.319+19263T>G , LRG_549t1:c.319+19263T>G	NP_000120.2:n.319+19263T>G
XM_006715010.2:c.319+19263T>G	XP_006715073.1:n.319+19263T>G
XM_011514342.1:c.481+19263T>G	XP_011512644.1:n.481+19263T>G
NM_000129.4:c.319+19263T>G MANE Select	NP_000120.2:n.319+19263T>G