Canonical Allele Identifier: CA6580815
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs768367699
ExAC: 12:52845326 G / A
gnomAD v2: 12-52845326-G-A
gnomAD v4: 12-52451542-G-A
MyVariant Identifiers: chr12:g.52845326G>A (hg19) chr12:g.52451542G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451542G>A , CM000674.2:g.52451542G>A GRCh38
NC_000012.11:g.52845326G>A , CM000674.1:g.52845326G>A GRCh37
NC_000012.10:g.51131593G>A NCBI36
NG_008299.1:g.5585C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.537C>T MANE Select ENSP00000252252.3:p.Asp179=
ENST00000252252.3:c.537C>T ENSP00000252252.3:p.Asp179=
NM_005555.3:c.537C>T NP_005546.2:p.Asp179=
NM_005555.4:c.537C>T MANE Select NP_005546.2:p.Asp179=
Search 100 bp 5'
Search 100 bp 3'