Canonical Allele Identifier: CA480068224
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs1940406316
gnomAD v3: 12-52451689-G-A
gnomAD v4: 12-52451689-G-A
MyVariant Identifiers: chr12:g.52845473G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451689G>A , CM000674.2:g.52451689G>A GRCh38
NC_000012.11:g.52845473G>A , CM000674.1:g.52845473G>A GRCh37
NC_000012.10:g.51131740G>A NCBI36
NG_008299.1:g.5438C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.390C>T MANE Select ENSP00000252252.3:p.Cys130=
ENST00000252252.3:c.390C>T ENSP00000252252.3:p.Cys130=
NM_005555.3:c.390C>T NP_005546.2:p.Cys130=
NM_005555.4:c.390C>T MANE Select NP_005546.2:p.Cys130=
Search 100 bp 5'
Search 100 bp 3'