Canonical Allele Identifier: CA362740186

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6225075C>G (hg19) ; chr6:g.6224842C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6224842C>G , CM000668.2:g.6224842C>G	GRCh38
NC_000006.11:g.6225075C>G , CM000668.1:g.6225075C>G	GRCh37
NC_000006.10:g.6170074C>G	NCBI36
NG_008107.1:g.100850G>C , LRG_549:g.100850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.817G>C MANE Select	ENSP00000264870.3:p.Glu273Gln
ENST00000264870.7:c.817G>C	ENSP00000264870.3:p.Glu273Gln
NM_000129.3:c.817G>C , LRG_549t1:c.817G>C	NP_000120.2:p.Glu273Gln
XM_006715010.2:c.817G>C	XP_006715073.1:p.Glu273Gln
XM_011514342.1:c.979G>C	XP_011512644.1:p.Glu327Gln
NM_000129.4:c.817G>C MANE Select	NP_000120.2:p.Glu273Gln