Canonical Allele Identifier: CA362740347

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6248594A>T (hg19) ; chr6:g.6248361A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6248361A>T , CM000668.2:g.6248361A>T	GRCh38
NC_000006.11:g.6248594A>T , CM000668.1:g.6248594A>T	GRCh37
NC_000006.10:g.6193593A>T	NCBI36
NG_008107.1:g.77331T>A , LRG_549:g.77331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.749T>A MANE Select	ENSP00000264870.3:p.Leu250His
ENST00000264870.7:c.749T>A	ENSP00000264870.3:p.Leu250His
NM_000129.3:c.749T>A , LRG_549t1:c.749T>A	NP_000120.2:p.Leu250His
XM_006715010.2:c.749T>A	XP_006715073.1:p.Leu250His
XM_011514342.1:c.911T>A	XP_011512644.1:p.Leu304His
NM_000129.4:c.749T>A MANE Select	NP_000120.2:p.Leu250His