Canonical Allele Identifier: CA3624757

Gene: F13A1

Linked Data

• dbSNP Id: rs370994159
• ExAC: 6:6318752 G / C
• gnomAD v2: 6-6318752-G-C
• gnomAD v3: 6-6318519-G-C
• gnomAD v4: 6-6318519-G-C
• MyVariant Identifiers: chr6:g.6318752G>C (hg19) ; chr6:g.6318519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6318519G>C , CM000668.2:g.6318519G>C	GRCh38
NC_000006.11:g.6318752G>C , CM000668.1:g.6318752G>C	GRCh37
NC_000006.10:g.6263751G>C	NCBI36
NG_008107.1:g.7173C>G , LRG_549:g.7173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.130+16C>G MANE Select	ENSP00000264870.3:n.130+16C>G
ENST00000264870.7:c.130+16C>G	ENSP00000264870.3:n.130+16C>G
ENST00000414279.5:c.130+16C>G	ENSP00000413334.1:n.130+16C>G
ENST00000431222.6:c.292+16C>G	ENSP00000416295.2:n.292+16C>G
ENST00000451619.1:c.204+16C>G
NM_000129.3:c.130+16C>G , LRG_549t1:c.130+16C>G	NP_000120.2:n.130+16C>G
XM_006715010.2:c.130+16C>G	XP_006715073.1:n.130+16C>G
XM_011514342.1:c.292+16C>G	XP_011512644.1:n.292+16C>G
NM_000129.4:c.130+16C>G MANE Select	NP_000120.2:n.130+16C>G