Canonical Allele Identifier: CA237194376

Gene: KRT6B

Linked Data

• dbSNP Id: rs900584980
• gnomAD v3: 12-52451348-A-G
• gnomAD v4: 12-52451348-A-G
• MyVariant Identifiers: chr12:g.52845132A>G (hg19) ; chr12:g.52451348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451348A>G , CM000674.2:g.52451348A>G	GRCh38
NC_000012.11:g.52845132A>G , CM000674.1:g.52845132A>G	GRCh37
NC_000012.10:g.51131399A>G	NCBI36
NG_008299.1:g.5779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.540+191T>C MANE Select	ENSP00000252252.3:n.540+191T>C
ENST00000252252.3:c.540+191T>C	ENSP00000252252.3:n.540+191T>C
NM_005555.3:c.540+191T>C	NP_005546.2:n.540+191T>C
NM_005555.4:c.540+191T>C MANE Select	NP_005546.2:n.540+191T>C