Canonical Allele Identifier: CA237233869
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs192559115
gnomAD v3: 12-52447674-A-G
gnomAD v4: 12-52447674-A-G
MyVariant Identifiers: chr12:g.52841458A>G (hg19) chr12:g.52447674A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447674A>G , CM000674.2:g.52447674A>G GRCh38
NC_000012.11:g.52841458A>G , CM000674.1:g.52841458A>G GRCh37
NC_000012.10:g.51127725A>G NCBI36
NG_008299.1:g.9453T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252252.4:c.1425-101T>C MANE Select ENSP00000252252.3:n.1425-101T>C
ENST00000252252.3:c.1425-101T>C ENSP00000252252.3:n.1425-101T>C
NM_005555.3:c.1425-101T>C NP_005546.2:n.1425-101T>C
NM_005555.4:c.1425-101T>C MANE Select NP_005546.2:n.1425-101T>C
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