Canonical Allele Identifier: CA362740075

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6225021A>C (hg19) ; chr6:g.6224788A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6224788A>C , CM000668.2:g.6224788A>C	GRCh38
NC_000006.11:g.6225021A>C , CM000668.1:g.6225021A>C	GRCh37
NC_000006.10:g.6170020A>C	NCBI36
NG_008107.1:g.100904T>G , LRG_549:g.100904T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.871T>G MANE Select	ENSP00000264870.3:p.Ser291Ala
ENST00000264870.7:c.871T>G	ENSP00000264870.3:p.Ser291Ala
ENST00000445223.1:c.21T>G
NM_000129.3:c.871T>G , LRG_549t1:c.871T>G	NP_000120.2:p.Ser291Ala
XM_006715010.2:c.871T>G	XP_006715073.1:p.Ser291Ala
XM_011514342.1:c.1033T>G	XP_011512644.1:p.Ser345Ala
NM_000129.4:c.871T>G MANE Select	NP_000120.2:p.Ser291Ala