Canonical Allele Identifier: CA6580813

Gene: KRT6B

Linked Data

• dbSNP Id: rs575382239
• ExAC: 12:52845318 C / T
• gnomAD v2: 12-52845318-C-T
• gnomAD v4: 12-52451534-C-T
• MyVariant Identifiers: chr12:g.52845318C>T (hg19) ; chr12:g.52451534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451534C>T , CM000674.2:g.52451534C>T	GRCh38
NC_000012.11:g.52845318C>T , CM000674.1:g.52845318C>T	GRCh37
NC_000012.10:g.51131585C>T	NCBI36
NG_008299.1:g.5593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.540+5G>A MANE Select	ENSP00000252252.3:n.540+5G>A
ENST00000252252.3:c.540+5G>A	ENSP00000252252.3:n.540+5G>A
NM_005555.3:c.540+5G>A	NP_005546.2:n.540+5G>A
NM_005555.4:c.540+5G>A MANE Select	NP_005546.2:n.540+5G>A