Canonical Allele Identifier: CA480068247
Gene: KRT6B HGNC NCBI

Linked Data

gnomAD v4: 12-52451698-G-A
COSMIC: COSM384259
MyVariant Identifiers: chr12:g.52845482G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451698G>A , CM000674.2:g.52451698G>A GRCh38
NC_000012.11:g.52845482G>A , CM000674.1:g.52845482G>A GRCh37
NC_000012.10:g.51131749G>A NCBI36
NG_008299.1:g.5429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.381C>T MANE Select ENSP00000252252.3:p.Phe127=
ENST00000252252.3:c.381C>T ENSP00000252252.3:p.Phe127=
NM_005555.3:c.381C>T NP_005546.2:p.Phe127=
NM_005555.4:c.381C>T MANE Select NP_005546.2:p.Phe127=
Search 100 bp 5'
Search 100 bp 3'