Canonical Allele Identifier: CA6580851
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs755434590
ExAC: 12:52845414 A / C
gnomAD v2: 12-52845414-A-C
gnomAD v4: 12-52451630-A-C
MyVariant Identifiers: chr12:g.52845414A>C (hg19) chr12:g.52451630A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451630A>C , CM000674.2:g.52451630A>C GRCh38
NC_000012.11:g.52845414A>C , CM000674.1:g.52845414A>C GRCh37
NC_000012.10:g.51131681A>C NCBI36
NG_008299.1:g.5497T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.449T>G MANE Select ENSP00000252252.3:p.Leu150Arg
ENST00000252252.3:c.449T>G ENSP00000252252.3:p.Leu150Arg
NM_005555.3:c.449T>G NP_005546.2:p.Leu150Arg
NM_005555.4:c.449T>G MANE Select NP_005546.2:p.Leu150Arg
Search 100 bp 5'
Search 100 bp 3'