Canonical Allele Identifier: CA384927452

Gene: KRT6B

Linked Data

• dbSNP Id: rs1406484322
• gnomAD v2: 12-52845448-T-A
• gnomAD v4: 12-52451664-T-A
• MyVariant Identifiers: chr12:g.52845448T>A (hg19) ; chr12:g.52451664T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451664T>A , CM000674.2:g.52451664T>A	GRCh38
NC_000012.11:g.52845448T>A , CM000674.1:g.52845448T>A	GRCh37
NC_000012.10:g.51131715T>A	NCBI36
NG_008299.1:g.5463A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.415A>T MANE Select	ENSP00000252252.3:p.Thr139Ser
ENST00000252252.3:c.415A>T	ENSP00000252252.3:p.Thr139Ser
NM_005555.3:c.415A>T	NP_005546.2:p.Thr139Ser
NM_005555.4:c.415A>T MANE Select	NP_005546.2:p.Thr139Ser