Canonical Allele Identifier: CA605068904

Gene: KRT6B

Linked Data

• dbSNP Id: rs1246216678
• gnomAD v2: 12-52845108-T-C
• gnomAD v3: 12-52451324-T-C
• gnomAD v4: 12-52451324-T-C
• MyVariant Identifiers: chr12:g.52845108T>C (hg19) ; chr12:g.52451324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451324T>C , CM000674.2:g.52451324T>C	GRCh38
NC_000012.11:g.52845108T>C , CM000674.1:g.52845108T>C	GRCh37
NC_000012.10:g.51131375T>C	NCBI36
NG_008299.1:g.5803A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.540+215A>G MANE Select	ENSP00000252252.3:n.540+215A>G
ENST00000252252.3:c.540+215A>G	ENSP00000252252.3:n.540+215A>G
NM_005555.3:c.540+215A>G	NP_005546.2:n.540+215A>G
NM_005555.4:c.540+215A>G MANE Select	NP_005546.2:n.540+215A>G