Canonical Allele Identifier: CA384927195
Gene: KRT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2291510
ClinVar RCV Id: RCV002832258
dbSNP Id: rs1323031235
gnomAD v2: 12-52845385-G-A
gnomAD v3: 12-52451601-G-A
gnomAD v4: 12-52451601-G-A
MyVariant Identifiers: chr12:g.52845385G>A (hg19) chr12:g.52451601G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451601G>A , CM000674.2:g.52451601G>A GRCh38
NC_000012.11:g.52845385G>A , CM000674.1:g.52845385G>A GRCh37
NC_000012.10:g.51131652G>A NCBI36
NG_008299.1:g.5526C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.478C>T MANE Select ENSP00000252252.3:p.Arg160Trp
ENST00000252252.3:c.478C>T ENSP00000252252.3:p.Arg160Trp
NM_005555.3:c.478C>T NP_005546.2:p.Arg160Trp
NM_005555.4:c.478C>T MANE Select NP_005546.2:p.Arg160Trp
Search 100 bp 5'
Search 100 bp 3'