Canonical Allele Identifier: CA384927218
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs766490253
gnomAD v2: 12-52845396-A-G
gnomAD v3: 12-52451612-A-G
gnomAD v4: 12-52451612-A-G
MyVariant Identifiers: chr12:g.52845396A>G (hg19) chr12:g.52451612A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451612A>G , CM000674.2:g.52451612A>G GRCh38
NC_000012.11:g.52845396A>G , CM000674.1:g.52845396A>G GRCh37
NC_000012.10:g.51131663A>G NCBI36
NG_008299.1:g.5515T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.467T>C MANE Select ENSP00000252252.3:p.Ile156Thr
ENST00000252252.3:c.467T>C ENSP00000252252.3:p.Ile156Thr
NM_005555.3:c.467T>C NP_005546.2:p.Ile156Thr
NM_005555.4:c.467T>C MANE Select NP_005546.2:p.Ile156Thr
Search 100 bp 5'
Search 100 bp 3'