Canonical Allele Identifier: CA384913320

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52286299A>C , CM000674.2:g.52286299A>C GRCh38
NC_000012.11:g.52680083A>C , CM000674.1:g.52680083A>C GRCh37
NC_000012.10:g.50966350A>C NCBI36
NG_008184.1:g.10217T>G
NG_008086.2:g.16655A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000423955.7:c.-5+10353A>C (KRT86) MANE Select ENSP00000444533.1:n.-5+10353A>C
ENST00000327741.9:c.1474T>G (KRT81) MANE Select ENSP00000369349.4:p.Ser492Ala
ENST00000423955.6:c.-5+10353A>C (KRT86) ENSP00000444533.1:n.-5+10353A>C
ENST00000553310.6:c.-4-15614A>C (KRT86) ENSP00000452237.3:n.-4-15614A>C
ENST00000615839.1:c.1420-9T>G (KRT81) ENSP00000483796.1:n.1420-9T>G
NM_002281.3:c.1474T>G (KRT81) NP_002272.2:p.Ser492Ala
XM_005268866.3:c.129+10353A>C (KRT86) XP_005268923.1:n.129+10353A>C
XM_011538334.1:c.1474T>G (KRT81) XP_011536636.1:p.Ser492Ala
XM_011538336.1:c.-5+10353A>C (KRT86) XP_011536638.1:n.-5+10353A>C
XM_011538337.1:c.-5+10353A>C (KRT86) XP_011536639.1:n.-5+10353A>C
XM_011538338.1:c.-5+10353A>C (KRT86) XP_011536640.1:n.-5+10353A>C
NM_001320198.1:c.-5+10353A>C (KRT86) NP_001307127.1:n.-5+10353A>C
XM_005268866.4:c.129+10353A>C (KRT86) XP_005268923.1:n.129+10353A>C
XM_017019296.1:c.-103+10353A>C (KRT86) XP_016874785.1:n.-103+10353A>C
NM_001320198.2:c.-5+10353A>C (KRT86) MANE Select NP_001307127.1:n.-5+10353A>C
NM_002281.4:c.1474T>G (KRT81) MANE Select NP_002272.2:p.Ser492Ala