Canonical Allele Identifier: CA6580408

Gene: KRT6B

Linked Data

• dbSNP Id: rs753141516
• ExAC: 12:52841542 A / C
• gnomAD v2: 12-52841542-A-C
• gnomAD v4: 12-52447758-A-C
• MyVariant Identifiers: chr12:g.52841542A>C (hg19) ; chr12:g.52447758A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52447758A>C , CM000674.2:g.52447758A>C	GRCh38
NC_000012.11:g.52841542A>C , CM000674.1:g.52841542A>C	GRCh37
NC_000012.10:g.51127809A>C	NCBI36
NG_008299.1:g.9369T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252252.4:c.1424+20T>G MANE Select	ENSP00000252252.3:n.1424+20T>G
ENST00000252252.3:c.1424+20T>G	ENSP00000252252.3:n.1424+20T>G
NM_005555.3:c.1424+20T>G	NP_005546.2:n.1424+20T>G
NM_005555.4:c.1424+20T>G MANE Select	NP_005546.2:n.1424+20T>G