Canonical Allele Identifier: CA1607993197

Gene: F13A1

Linked Data

• dbSNP Id: rs1583111175

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6286091A>G , CM000668.2:g.6286091A>G	GRCh38
NC_000006.11:g.6286324A>G , CM000668.1:g.6286324A>G	GRCh37
NC_000006.10:g.6231323A>G	NCBI36
NG_008107.1:g.39601T>C , LRG_549:g.39601T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.319+19260T>C MANE Select	ENSP00000264870.3:n.319+19260T>C
ENST00000264870.7:c.319+19260T>C	ENSP00000264870.3:n.319+19260T>C
ENST00000414279.5:c.319+19260T>C	ENSP00000413334.1:n.319+19260T>C
ENST00000431222.6:c.481+19260T>C	ENSP00000416295.2:n.481+19260T>C
ENST00000479211.1:n.304+19260T>C
NM_000129.3:c.319+19260T>C , LRG_549t1:c.319+19260T>C	NP_000120.2:n.319+19260T>C
XM_006715010.2:c.319+19260T>C	XP_006715073.1:n.319+19260T>C
XM_011514342.1:c.481+19260T>C	XP_011512644.1:n.481+19260T>C
NM_000129.4:c.319+19260T>C MANE Select	NP_000120.2:n.319+19260T>C