Canonical Allele Identifier: CA6576559
Gene: KRT86 HGNC NCBI
KRT81 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52288141A>T
GRCh37 chr12:g.52681925A>T
Revel Score:
ENST00000327741 (MANE Select) 0.179
ENST00000389388 0.179
gnomAD v2:
12:52681925 A / T
gnomAD v3:
12:52288141 A / T
gnomAD v4:
chr12-52288141-A-T
Joint Max Group AF 0.00007224 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00011826 (AFR)
dbSNP:
6580873
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52288141A>T , CM000674.2:g.52288141A>T GRCh38
NC_000012.11:g.52681925A>T , CM000674.1:g.52681925A>T GRCh37
NC_000012.10:g.50968192A>T NCBI36
NG_008184.1:g.8375T>A
NG_008086.2:g.18497A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000423955.7:c.-5+12195A>T (KRT86) MANE Select ENSP00000444533.1:n.-5+12195A>T
ENST00000327741.9:c.743T>A (KRT81) MANE Select ENSP00000369349.4:p.Leu248His
ENST00000423955.6:c.-5+12195A>T (KRT86) ENSP00000444533.1:n.-5+12195A>T
ENST00000553310.6:c.-4-13772A>T (KRT86) ENSP00000452237.3:n.-4-13772A>T
ENST00000615839.1:c.743T>A (KRT81) ENSP00000483796.1:p.Leu248His
NM_002281.3:c.743T>A (KRT81) NP_002272.2:p.Leu248His
XM_005268866.3:c.129+12195A>T (KRT86) XP_005268923.1:n.129+12195A>T
XM_011538334.1:c.743T>A (KRT81) XP_011536636.1:p.Leu248His
XM_011538336.1:c.-5+12195A>T (KRT86) XP_011536638.1:n.-5+12195A>T
XM_011538337.1:c.-5+12195A>T (KRT86) XP_011536639.1:n.-5+12195A>T
XM_011538338.1:c.-5+12195A>T (KRT86) XP_011536640.1:n.-5+12195A>T
NM_001320198.1:c.-5+12195A>T (KRT86) NP_001307127.1:n.-5+12195A>T
XM_005268866.4:c.129+12195A>T (KRT86) XP_005268923.1:n.129+12195A>T
XM_017019296.1:c.-103+12195A>T (KRT86) XP_016874785.1:n.-103+12195A>T
NM_001320198.2:c.-5+12195A>T (KRT86) MANE Select NP_001307127.1:n.-5+12195A>T
NM_002281.4:c.743T>A (KRT81) MANE Select NP_002272.2:p.Leu248His
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