Canonical Allele Identifier: CA362740136

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6225052C>A (hg19) ; chr6:g.6224819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6224819C>A , CM000668.2:g.6224819C>A	GRCh38
NC_000006.11:g.6225052C>A , CM000668.1:g.6225052C>A	GRCh37
NC_000006.10:g.6170051C>A	NCBI36
NG_008107.1:g.100873G>T , LRG_549:g.100873G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.840G>T MANE Select	ENSP00000264870.3:p.Trp280Cys
ENST00000264870.7:c.840G>T	ENSP00000264870.3:p.Trp280Cys
NM_000129.3:c.840G>T , LRG_549t1:c.840G>T	NP_000120.2:p.Trp280Cys
XM_006715010.2:c.840G>T	XP_006715073.1:p.Trp280Cys
XM_011514342.1:c.1002G>T	XP_011512644.1:p.Trp334Cys
NM_000129.4:c.840G>T MANE Select	NP_000120.2:p.Trp280Cys