Canonical Allele Identifier: CA384927585

Gene: KRT6B

Linked Data

• MyVariant Identifiers: chr12:g.52845475A>G (hg19) ; chr12:g.52451691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451691A>G , CM000674.2:g.52451691A>G	GRCh38
NC_000012.11:g.52845475A>G , CM000674.1:g.52845475A>G	GRCh37
NC_000012.10:g.51131742A>G	NCBI36
NG_008299.1:g.5436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.388T>C MANE Select	ENSP00000252252.3:p.Cys130Arg
ENST00000252252.3:c.388T>C	ENSP00000252252.3:p.Cys130Arg
NM_005555.3:c.388T>C	NP_005546.2:p.Cys130Arg
NM_005555.4:c.388T>C MANE Select	NP_005546.2:p.Cys130Arg