Canonical Allele Identifier: CA384919315

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52306282T>C , CM000674.2:g.52306282T>C GRCh38
NC_000012.11:g.52700066T>C , CM000674.1:g.52700066T>C GRCh37
NC_000012.10:g.50986333T>C NCBI36
NG_008086.1:g.9418T>C
NG_008086.2:g.36638T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000423955.7:c.1247+2T>C (KRT86) MANE Select ENSP00000444533.1:n.1247+2T>C
ENST00000293525.5:c.1247+2T>C (KRT86) ENSP00000293525.5:n.1247+2T>C
ENST00000423955.6:c.1247+2T>C (KRT86) ENSP00000444533.1:n.1247+2T>C
NM_002284.3:c.1247+2T>C (KRT86) NP_002275.1:n.1247+2T>C
XM_005268866.3:c.1478+2T>C (KRT86) XP_005268923.1:n.1478+2T>C
XM_011538334.1:c.-212+1929A>G (KRT81) XP_011536636.1:n.-212+1929A>G
XM_011538336.1:c.1247+2T>C (KRT86) XP_011536638.1:n.1247+2T>C
XM_011538337.1:c.1247+2T>C (KRT86) XP_011536639.1:n.1247+2T>C
XM_011538338.1:c.1247+2T>C (KRT86) XP_011536640.1:n.1247+2T>C
NM_001320198.1:c.1247+2T>C (KRT86) NP_001307127.1:n.1247+2T>C
XM_005268866.4:c.1478+2T>C (KRT86) XP_005268923.1:n.1478+2T>C
XM_017019296.1:c.1247+2T>C (KRT86) XP_016874785.1:n.1247+2T>C
NM_001320198.2:c.1247+2T>C (KRT86) MANE Select NP_001307127.1:n.1247+2T>C