Canonical Allele Identifier: CA6580404

Gene: KRT6B

Linked Data

• dbSNP Id: rs771242033
• ExAC: 12:52841514 C / A
• gnomAD v2: 12-52841514-C-A
• gnomAD v4: 12-52447730-C-A
• MyVariant Identifiers: chr12:g.52841514C>A (hg19) ; chr12:g.52447730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52447730C>A , CM000674.2:g.52447730C>A	GRCh38
NC_000012.11:g.52841514C>A , CM000674.1:g.52841514C>A	GRCh37
NC_000012.10:g.51127781C>A	NCBI36
NG_008299.1:g.9397G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252252.4:c.1424+48G>T MANE Select	ENSP00000252252.3:n.1424+48G>T
ENST00000252252.3:c.1424+48G>T	ENSP00000252252.3:n.1424+48G>T
NM_005555.3:c.1424+48G>T	NP_005546.2:n.1424+48G>T
NM_005555.4:c.1424+48G>T MANE Select	NP_005546.2:n.1424+48G>T