Canonical Allele Identifier: CA384927122
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs140336962
gnomAD v3: 12-52451588-C-G
gnomAD v4: 12-52451588-C-G
MyVariant Identifiers: chr12:g.52845372C>G (hg19) chr12:g.52451588C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451588C>G , CM000674.2:g.52451588C>G GRCh38
NC_000012.11:g.52845372C>G , CM000674.1:g.52845372C>G GRCh37
NC_000012.10:g.51131639C>G NCBI36
NG_008299.1:g.5539G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.491G>C MANE Select ENSP00000252252.3:p.Arg164Pro
ENST00000252252.3:c.491G>C ENSP00000252252.3:p.Arg164Pro
NM_005555.3:c.491G>C NP_005546.2:p.Arg164Pro
NM_005555.4:c.491G>C MANE Select NP_005546.2:p.Arg164Pro
Search 100 bp 5'
Search 100 bp 3'