Canonical Allele Identifier: CA362740373

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6248604G>T (hg19) ; chr6:g.6248371G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6248371G>T , CM000668.2:g.6248371G>T	GRCh38
NC_000006.11:g.6248604G>T , CM000668.1:g.6248604G>T	GRCh37
NC_000006.10:g.6193603G>T	NCBI36
NG_008107.1:g.77321C>A , LRG_549:g.77321C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.739C>A MANE Select	ENSP00000264870.3:p.Gln247Lys
ENST00000264870.7:c.739C>A	ENSP00000264870.3:p.Gln247Lys
NM_000129.3:c.739C>A , LRG_549t1:c.739C>A	NP_000120.2:p.Gln247Lys
XM_006715010.2:c.739C>A	XP_006715073.1:p.Gln247Lys
XM_011514342.1:c.901C>A	XP_011512644.1:p.Gln301Lys
NM_000129.4:c.739C>A MANE Select	NP_000120.2:p.Gln247Lys