Canonical Allele Identifier: CA6580403

Gene: KRT6B

Linked Data

• dbSNP Id: rs368526165
• ExAC: 12:52841511 G / A
• gnomAD v2: 12-52841511-G-A
• gnomAD v3: 12-52447727-G-A
• gnomAD v4: 12-52447727-G-A
• MyVariant Identifiers: chr12:g.52841511G>A (hg19) ; chr12:g.52447727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52447727G>A , CM000674.2:g.52447727G>A	GRCh38
NC_000012.11:g.52841511G>A , CM000674.1:g.52841511G>A	GRCh37
NC_000012.10:g.51127778G>A	NCBI36
NG_008299.1:g.9400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252252.4:c.1424+51C>T MANE Select	ENSP00000252252.3:n.1424+51C>T
ENST00000252252.3:c.1424+51C>T	ENSP00000252252.3:n.1424+51C>T
NM_005555.3:c.1424+51C>T	NP_005546.2:n.1424+51C>T
NM_005555.4:c.1424+51C>T MANE Select	NP_005546.2:n.1424+51C>T