Canonical Allele Identifier: CA480068872
Gene: KRT6B HGNC NCBI

Linked Data

gnomAD v4: 12-52447797-G-A
MyVariant Identifiers: chr12:g.52841581G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447797G>A , CM000674.2:g.52447797G>A GRCh38
NC_000012.11:g.52841581G>A , CM000674.1:g.52841581G>A GRCh37
NC_000012.10:g.51127848G>A NCBI36
NG_008299.1:g.9330C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.1405C>T MANE Select ENSP00000252252.3:p.Leu469=
ENST00000252252.3:c.1405C>T ENSP00000252252.3:p.Leu469=
NM_005555.3:c.1405C>T NP_005546.2:p.Leu469=
NM_005555.4:c.1405C>T MANE Select NP_005546.2:p.Leu469=
Search 100 bp 5'
Search 100 bp 3'