Canonical Allele Identifier: CA384927120
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs140336962
gnomAD v2: 12-52845372-C-A
gnomAD v4: 12-52451588-C-A
MyVariant Identifiers: chr12:g.52845372C>A (hg19) chr12:g.52451588C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.491G>T MANE Select ENSP00000252252.3:p.Arg164Leu
ENST00000252252.3:c.491G>T ENSP00000252252.3:p.Arg164Leu
NM_005555.3:c.491G>T NP_005546.2:p.Arg164Leu
NM_005555.4:c.491G>T MANE Select NP_005546.2:p.Arg164Leu
Search 100 bp 5'
Search 100 bp 3'