Canonical Allele Identifier: CA6580823

Gene: KRT6B

Linked Data

• dbSNP Id: rs140336962
• ExAC: 12:52845372 C / T
• gnomAD v2: 12-52845372-C-T
• gnomAD v3: 12-52451588-C-T
• gnomAD v4: 12-52451588-C-T
• MyVariant Identifiers: chr12:g.52845372C>T (hg19) ; chr12:g.52451588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451588C>T , CM000674.2:g.52451588C>T	GRCh38
NC_000012.11:g.52845372C>T , CM000674.1:g.52845372C>T	GRCh37
NC_000012.10:g.51131639C>T	NCBI36
NG_008299.1:g.5539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.491G>A MANE Select	ENSP00000252252.3:p.Arg164His
ENST00000252252.3:c.491G>A	ENSP00000252252.3:p.Arg164His
NM_005555.3:c.491G>A	NP_005546.2:p.Arg164His
NM_005555.4:c.491G>A MANE Select	NP_005546.2:p.Arg164His