Canonical Allele Identifier: CA384913223

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52286255C>A , CM000674.2:g.52286255C>A GRCh38
NC_000012.11:g.52680039C>A , CM000674.1:g.52680039C>A GRCh37
NC_000012.10:g.50966306C>A NCBI36
NG_008184.1:g.10261G>T
NG_008086.2:g.16611C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423955.7:c.-5+10309C>A (KRT86) MANE Select ENSP00000444533.1:n.-5+10309C>A
ENST00000327741.9:c.1518G>T (KRT81) MANE Select ENSP00000369349.4:p.Ter506Tyr
ENST00000423955.6:c.-5+10309C>A (KRT86) ENSP00000444533.1:n.-5+10309C>A
ENST00000553310.6:c.-4-15658C>A (KRT86) ENSP00000452237.3:n.-4-15658C>A
ENST00000615839.1:c.1455G>T (KRT81) ENSP00000483796.1:p.Ter485Tyr
NM_002281.3:c.1518G>T (KRT81) NP_002272.2:p.Ter506Tyr
XM_005268866.3:c.129+10309C>A (KRT86) XP_005268923.1:n.129+10309C>A
XM_011538334.1:c.1518G>T (KRT81) XP_011536636.1:p.Ter506Tyr
XM_011538336.1:c.-5+10309C>A (KRT86) XP_011536638.1:n.-5+10309C>A
XM_011538337.1:c.-5+10309C>A (KRT86) XP_011536639.1:n.-5+10309C>A
XM_011538338.1:c.-5+10309C>A (KRT86) XP_011536640.1:n.-5+10309C>A
NM_001320198.1:c.-5+10309C>A (KRT86) NP_001307127.1:n.-5+10309C>A
XM_005268866.4:c.129+10309C>A (KRT86) XP_005268923.1:n.129+10309C>A
XM_017019296.1:c.-103+10309C>A (KRT86) XP_016874785.1:n.-103+10309C>A
NM_001320198.2:c.-5+10309C>A (KRT86) MANE Select NP_001307127.1:n.-5+10309C>A
NM_002281.4:c.1518G>T (KRT81) MANE Select NP_002272.2:p.Ter506Tyr