Canonical Allele Identifier: CA826874936

Gene: F13A1

Linked Data

• dbSNP Id: rs1164363699
• gnomAD v3: 6-6286049-A-C
• gnomAD v4: 6-6286049-A-C
• MyVariant Identifiers: chr6:g.6286282A>C (hg19) ; chr6:g.6286049A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6286049A>C , CM000668.2:g.6286049A>C	GRCh38
NC_000006.11:g.6286282A>C , CM000668.1:g.6286282A>C	GRCh37
NC_000006.10:g.6231281A>C	NCBI36
NG_008107.1:g.39643T>G , LRG_549:g.39643T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.320-19240T>G MANE Select	ENSP00000264870.3:n.320-19240T>G
ENST00000264870.7:c.320-19240T>G	ENSP00000264870.3:n.320-19240T>G
ENST00000414279.5:c.320-19240T>G	ENSP00000413334.1:n.320-19240T>G
ENST00000431222.6:c.482-19240T>G	ENSP00000416295.2:n.482-19240T>G
ENST00000479211.1:n.305-19240T>G
NM_000129.3:c.320-19240T>G , LRG_549t1:c.320-19240T>G	NP_000120.2:n.320-19240T>G
XM_006715010.2:c.320-19240T>G	XP_006715073.1:n.320-19240T>G
XM_011514342.1:c.482-19240T>G	XP_011512644.1:n.482-19240T>G
NM_000129.4:c.320-19240T>G MANE Select	NP_000120.2:n.320-19240T>G