Canonical Allele Identifier: CA384926163

Gene: KRT6B

Linked Data

• gnomAD v4: 12-52451541-T-G
• MyVariant Identifiers: chr12:g.52845325T>G (hg19) ; chr12:g.52451541T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451541T>G , CM000674.2:g.52451541T>G	GRCh38
NC_000012.11:g.52845325T>G , CM000674.1:g.52845325T>G	GRCh37
NC_000012.10:g.51131592T>G	NCBI36
NG_008299.1:g.5586A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.538A>C MANE Select	ENSP00000252252.3:p.Lys180Gln
ENST00000252252.3:c.538A>C	ENSP00000252252.3:p.Lys180Gln
NM_005555.3:c.538A>C	NP_005546.2:p.Lys180Gln
NM_005555.4:c.538A>C MANE Select	NP_005546.2:p.Lys180Gln