Canonical Allele Identifier: CA393788353

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89624549C>A , CM000677.2:g.89624549C>A GRCh38
NC_000015.9:g.90167780C>A , CM000677.1:g.90167780C>A GRCh37
NC_000015.8:g.87968784C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000268138.12:c.4239C>A (TICRR) MANE Select ENSP00000268138.7:p.Ser1413Arg
ENST00000268138.11:c.4239C>A (TICRR) ENSP00000268138.7:p.Ser1413Arg
ENST00000558928.1:n.180+4052G>T (KIF7)
ENST00000560985.5:c.4236C>A (TICRR) ENSP00000453306.1:p.Ser1412Arg
NM_001308025.1:c.4236C>A (TICRR) NP_001294954.1:p.Ser1412Arg
NM_152259.3:c.4239C>A (TICRR) NP_689472.3:p.Ser1413Arg
XM_011521534.1:c.3973+4052G>T (KIF7) XP_011519836.1:n.3973+4052G>T
XM_011521535.1:c.3973+4052G>T (KIF7) XP_011519837.1:n.3973+4052G>T
XM_011521536.1:c.3973+4052G>T (KIF7) XP_011519838.1:n.3973+4052G>T
XM_011522162.1:c.4239C>A (TICRR) XP_011520464.1:p.Ser1413Arg
NM_152259.4:c.4239C>A (TICRR) MANE Select NP_689472.3:p.Ser1413Arg