Canonical Allele Identifier: CA6580441
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs769957795
ExAC: 12:52841655 A / T
gnomAD v2: 12-52841655-A-T
gnomAD v4: 12-52447871-A-T
MyVariant Identifiers: chr12:g.52841655A>T (hg19) chr12:g.52447871A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447871A>T , CM000674.2:g.52447871A>T GRCh38
NC_000012.11:g.52841655A>T , CM000674.1:g.52841655A>T GRCh37
NC_000012.10:g.51127922A>T NCBI36
NG_008299.1:g.9256T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.1331T>A MANE Select ENSP00000252252.3:p.Leu444Gln
ENST00000252252.3:c.1331T>A ENSP00000252252.3:p.Leu444Gln
NM_005555.3:c.1331T>A NP_005546.2:p.Leu444Gln
NM_005555.4:c.1331T>A MANE Select NP_005546.2:p.Leu444Gln
Search 100 bp 5'
Search 100 bp 3'