Canonical Allele Identifier: CA384927030
Gene: KRT6B HGNC NCBI

Linked Data

gnomAD v4: 12-52451571-G-C
MyVariant Identifiers: chr12:g.52845355G>C (hg19) chr12:g.52451571G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451571G>C , CM000674.2:g.52451571G>C GRCh38
NC_000012.11:g.52845355G>C , CM000674.1:g.52845355G>C GRCh37
NC_000012.10:g.51131622G>C NCBI36
NG_008299.1:g.5556C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.508C>G MANE Select ENSP00000252252.3:p.Leu170Val
ENST00000252252.3:c.508C>G ENSP00000252252.3:p.Leu170Val
NM_005555.3:c.508C>G NP_005546.2:p.Leu170Val
NM_005555.4:c.508C>G MANE Select NP_005546.2:p.Leu170Val
Search 100 bp 5'
Search 100 bp 3'