Canonical Allele Identifier: CA1308422

Gene: F13B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197057135T>C , CM000663.2:g.197057135T>C	GRCh38
NC_000001.10:g.197026265T>C , CM000663.1:g.197026265T>C	GRCh37
NC_000001.9:g.195292888T>C	NCBI36
NG_012065.1:g.15133A>G , LRG_550:g.15133A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1049A>G MANE Select	ENSP00000356382.2:p.His350Arg
ENST00000367412.1:c.1049A>G	ENSP00000356382.1:p.His350Arg
NM_001994.2:c.1049A>G , LRG_550t1:c.1049A>G	NP_001985.2:p.His350Arg
XM_011509283.1:c.1049A>G	XP_011507585.1:p.His350Arg
XM_011509284.1:c.1046A>G	XP_011507586.1:p.His349Arg
XM_011509285.1:c.953A>G	XP_011507587.1:p.His318Arg
XM_011509286.1:c.905A>G	XP_011507588.1:p.His302Arg
XM_011509283.2:c.1049A>G	XP_011507585.1:p.His350Arg
XM_011509284.2:c.1046A>G	XP_011507586.1:p.His349Arg
XM_011509286.2:c.905A>G	XP_011507588.1:p.His302Arg
NM_001994.3:c.1049A>G MANE Select	NP_001985.2:p.His350Arg