Canonical Allele Identifier: CA3624780

Gene: F13A1

Linked Data

• dbSNP Id: rs5985
• ExAC: 6:6318795 C / T
• gnomAD v2: 6-6318795-C-T
• gnomAD v4: 6-6318562-C-T
• MyVariant Identifiers: chr6:g.6318795C>T (hg19) ; chr6:g.6318562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6318562C>T , CM000668.2:g.6318562C>T	GRCh38
NC_000006.11:g.6318795C>T , CM000668.1:g.6318795C>T	GRCh37
NC_000006.10:g.6263794C>T	NCBI36
NG_008107.1:g.7130G>A , LRG_549:g.7130G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.103G>A MANE Select	ENSP00000264870.3:p.Val35Met
ENST00000264870.7:c.103G>A	ENSP00000264870.3:p.Val35Met
ENST00000414279.5:c.103G>A	ENSP00000413334.1:p.Val35Met
ENST00000431222.6:c.265G>A	ENSP00000416295.2:p.Val89Met
ENST00000451619.1:c.177G>A
NM_000129.3:c.103G>A , LRG_549t1:c.103G>A	NP_000120.2:p.Val35Met
XM_006715010.2:c.103G>A	XP_006715073.1:p.Val35Met
XM_011514342.1:c.265G>A	XP_011512644.1:p.Val89Met
NM_000129.4:c.103G>A MANE Select	NP_000120.2:p.Val35Met