Canonical Allele Identifier: CA6580406

Gene: KRT6B

Linked Data

• dbSNP Id: rs759634078
• ExAC: 12:52841526 A / G
• gnomAD v2: 12-52841526-A-G
• MyVariant Identifiers: chr12:g.52841526A>G (hg19) ; chr12:g.52447742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52447742A>G , CM000674.2:g.52447742A>G	GRCh38
NC_000012.11:g.52841526A>G , CM000674.1:g.52841526A>G	GRCh37
NC_000012.10:g.51127793A>G	NCBI36
NG_008299.1:g.9385T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252252.4:c.1424+36T>C MANE Select	ENSP00000252252.3:n.1424+36T>C
ENST00000252252.3:c.1424+36T>C	ENSP00000252252.3:n.1424+36T>C
NM_005555.3:c.1424+36T>C	NP_005546.2:n.1424+36T>C
NM_005555.4:c.1424+36T>C MANE Select	NP_005546.2:n.1424+36T>C