Canonical Allele Identifier: CA237194666
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs149739313
gnomAD v2: 12-52845344-C-T
gnomAD v4: 12-52451560-C-T
MyVariant Identifiers: chr12:g.52845344C>T (hg19) chr12:g.52845344_52845347delinsTTTG (hg19) chr12:g.52451560C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451560C>T , CM000674.2:g.52451560C>T GRCh38
NC_000012.11:g.52845344C>T , CM000674.1:g.52845344C>T GRCh37
NC_000012.10:g.51131611C>T NCBI36
NG_008299.1:g.5567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.519G>A MANE Select ENSP00000252252.3:p.Lys173=
ENST00000252252.3:c.519G>A ENSP00000252252.3:p.Lys173=
NM_005555.3:c.519G>A NP_005546.2:p.Lys173=
NM_005555.4:c.519G>A MANE Select NP_005546.2:p.Lys173=
Search 100 bp 5'
Search 100 bp 3'