Canonical Allele Identifier: CA6580876

Gene: KRT6B

Linked Data

• dbSNP Id: rs369674246
• ExAC: 12:52845478 C / A
• gnomAD v2: 12-52845478-C-A
• gnomAD v3: 12-52451694-C-A
• gnomAD v4: 12-52451694-C-A
• MyVariant Identifiers: chr12:g.52845478C>A (hg19) ; chr12:g.52451694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451694C>A , CM000674.2:g.52451694C>A	GRCh38
NC_000012.11:g.52845478C>A , CM000674.1:g.52845478C>A	GRCh37
NC_000012.10:g.51131745C>A	NCBI36
NG_008299.1:g.5433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.385G>T MANE Select	ENSP00000252252.3:p.Val129Leu
ENST00000252252.3:c.385G>T	ENSP00000252252.3:p.Val129Leu
NM_005555.3:c.385G>T	NP_005546.2:p.Val129Leu
NM_005555.4:c.385G>T MANE Select	NP_005546.2:p.Val129Leu