Canonical Allele Identifier: CA237194411
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs75392725
gnomAD v2: 12-52845161-C-T
gnomAD v3: 12-52451377-C-T
gnomAD v4: 12-52451377-C-T
MyVariant Identifiers: chr12:g.52845161C>T (hg19) chr12:g.52451377C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451377C>T , CM000674.2:g.52451377C>T GRCh38
NC_000012.11:g.52845161C>T , CM000674.1:g.52845161C>T GRCh37
NC_000012.10:g.51131428C>T NCBI36
NG_008299.1:g.5750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.540+162G>A MANE Select ENSP00000252252.3:n.540+162G>A
ENST00000252252.3:c.540+162G>A ENSP00000252252.3:n.540+162G>A
NM_005555.3:c.540+162G>A NP_005546.2:n.540+162G>A
NM_005555.4:c.540+162G>A MANE Select NP_005546.2:n.540+162G>A
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