Canonical Allele Identifier: CA384927292

Gene: KRT6B

Linked Data

• dbSNP Id: rs1197045060
• gnomAD v3: 12-52451632-G-C
• gnomAD v4: 12-52451632-G-C
• MyVariant Identifiers: chr12:g.52845416G>C (hg19) ; chr12:g.52451632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451632G>C , CM000674.2:g.52451632G>C	GRCh38
NC_000012.11:g.52845416G>C , CM000674.1:g.52845416G>C	GRCh37
NC_000012.10:g.51131683G>C	NCBI36
NG_008299.1:g.5495C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.447C>G MANE Select	ENSP00000252252.3:p.Asn149Lys
ENST00000252252.3:c.447C>G	ENSP00000252252.3:p.Asn149Lys
NM_005555.3:c.447C>G	NP_005546.2:p.Asn149Lys
NM_005555.4:c.447C>G MANE Select	NP_005546.2:p.Asn149Lys