Canonical Allele Identifier: CA384927353
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs1367914390
gnomAD v2: 12-52845429-A-G
MyVariant Identifiers: chr12:g.52845429A>G (hg19) chr12:g.52451645A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451645A>G , CM000674.2:g.52451645A>G GRCh38
NC_000012.11:g.52845429A>G , CM000674.1:g.52845429A>G GRCh37
NC_000012.10:g.51131696A>G NCBI36
NG_008299.1:g.5482T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.434T>C MANE Select ENSP00000252252.3:p.Leu145Pro
ENST00000252252.3:c.434T>C ENSP00000252252.3:p.Leu145Pro
NM_005555.3:c.434T>C NP_005546.2:p.Leu145Pro
NM_005555.4:c.434T>C MANE Select NP_005546.2:p.Leu145Pro
Search 100 bp 5'
Search 100 bp 3'