Canonical Allele Identifier: CA362739933

Gene: F13A1

Linked Data

• ClinVar Variation Id: 2429375
• ClinVar RCV Id: RCV003126312
• MyVariant Identifiers: chr6:g.6224955C>G (hg19) ; chr6:g.6224722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6224722C>G , CM000668.2:g.6224722C>G	GRCh38
NC_000006.11:g.6224955C>G , CM000668.1:g.6224955C>G	GRCh37
NC_000006.10:g.6169954C>G	NCBI36
NG_008107.1:g.100970G>C , LRG_549:g.100970G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.937G>C MANE Select	ENSP00000264870.3:p.Gly313Arg
ENST00000264870.7:c.937G>C	ENSP00000264870.3:p.Gly313Arg
ENST00000445223.1:c.87G>C
NM_000129.3:c.937G>C , LRG_549t1:c.937G>C	NP_000120.2:p.Gly313Arg
XM_006715010.2:c.937G>C	XP_006715073.1:p.Gly313Arg
XM_011514342.1:c.1099G>C	XP_011512644.1:p.Gly367Arg
NM_000129.4:c.937G>C MANE Select	NP_000120.2:p.Gly313Arg