Canonical Allele Identifier: CA343993339
Gene: F13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039413T>A , CM000663.2:g.197039413T>A GRCh38
NC_000001.10:g.197008543T>A , CM000663.1:g.197008543T>A GRCh37
NC_000001.9:g.195275166T>A NCBI36
NG_012065.1:g.32855A>T , LRG_550:g.32855A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.1953-2A>T MANE Select ENSP00000356382.2:n.1953-2A>T
ENST00000649282.1:c.708-2A>T ENSP00000497116.1:n.708-2A>T
ENST00000367412.1:c.1953-2A>T ENSP00000356382.1:n.1953-2A>T
NM_001994.2:c.1953-2A>T , LRG_550t1:c.1953-2A>T NP_001985.2:n.1953-2A>T
XM_011509283.2:c.*886A>T XP_011507585.1:n.*886A>T
XM_011509284.2:c.*886A>T XP_011507586.1:n.*886A>T
XM_011509286.2:c.*886A>T XP_011507588.1:n.*886A>T
NM_001994.3:c.1953-2A>T MANE Select NP_001985.2:n.1953-2A>T