Canonical Allele Identifier: CA384927440

Gene: KRT6B

Linked Data

• MyVariant Identifiers: chr12:g.52845444A>G (hg19) ; chr12:g.52451660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451660A>G , CM000674.2:g.52451660A>G	GRCh38
NC_000012.11:g.52845444A>G , CM000674.1:g.52845444A>G	GRCh37
NC_000012.10:g.51131711A>G	NCBI36
NG_008299.1:g.5467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.419T>C MANE Select	ENSP00000252252.3:p.Val140Ala
ENST00000252252.3:c.419T>C	ENSP00000252252.3:p.Val140Ala
NM_005555.3:c.419T>C	NP_005546.2:p.Val140Ala
NM_005555.4:c.419T>C MANE Select	NP_005546.2:p.Val140Ala