Canonical Allele Identifier: CA362655815

Gene: F13A1

Linked Data

• MyVariant Identifiers: chr6:g.6145853C>A (hg19) ; chr6:g.6145620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6145620C>A , CM000668.2:g.6145620C>A	GRCh38
NC_000006.11:g.6145853C>A , CM000668.1:g.6145853C>A	GRCh37
NC_000006.10:g.6090852C>A	NCBI36
NG_008107.1:g.180072G>T , LRG_549:g.180072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.2198G>T MANE Select	ENSP00000264870.3:p.Ter733Leu
ENST00000264870.7:c.2198G>T	ENSP00000264870.3:p.Ter733Leu
NM_000129.3:c.2198G>T , LRG_549t1:c.2198G>T	NP_000120.2:p.Ter733Leu
XM_006715010.2:c.2198G>T	XP_006715073.1:p.Ter733Leu
XM_011514342.1:c.2360G>T	XP_011512644.1:p.Ter787Leu
NM_000129.4:c.2198G>T MANE Select	NP_000120.2:p.Ter733Leu