Canonical Allele Identifier: CA1308290
Gene: F13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197050849A>G , CM000663.2:g.197050849A>G GRCh38
NC_000001.10:g.197019979A>G , CM000663.1:g.197019979A>G GRCh37
NC_000001.9:g.195286602A>G NCBI36
NG_012065.1:g.21419T>C , LRG_550:g.21419T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001994.3:c.1586T>C MANE Select NP_001985.2:p.Leu529Pro
ENST00000367412.2:c.1586T>C MANE Select ENSP00000356382.2:p.Leu529Pro
NM_001994.2:c.1586T>C , LRG_550t1:c.1586T>C NP_001985.2:p.Leu529Pro
ENST00000367412.1:c.1586T>C ENSP00000356382.1:p.Leu529Pro
ENST00000649282.1:c.341T>C ENSP00000497116.1:p.Leu114Pro
XM_011509283.1:c.1586T>C XP_011507585.1:p.Leu529Pro
XM_011509283.2:c.1586T>C XP_011507585.1:p.Leu529Pro
XM_011509284.1:c.1583T>C XP_011507586.1:p.Leu528Pro
XM_011509284.2:c.1583T>C XP_011507586.1:p.Leu528Pro
XM_011509285.1:c.1490T>C XP_011507587.1:p.Leu497Pro
XM_011509286.1:c.1442T>C XP_011507588.1:p.Leu481Pro
XM_011509286.2:c.1442T>C XP_011507588.1:p.Leu481Pro