Canonical Allele Identifier: CA384981635
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs1396806046
gnomAD v2: 12-52841560-A-C
gnomAD v4: 12-52447776-A-C
MyVariant Identifiers: chr12:g.52841560A>C (hg19) chr12:g.52447776A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447776A>C , CM000674.2:g.52447776A>C GRCh38
NC_000012.11:g.52841560A>C , CM000674.1:g.52841560A>C GRCh37
NC_000012.10:g.51127827A>C NCBI36
NG_008299.1:g.9351T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252252.4:c.1424+2T>G MANE Select ENSP00000252252.3:n.1424+2T>G
ENST00000252252.3:c.1424+2T>G ENSP00000252252.3:n.1424+2T>G
NM_005555.3:c.1424+2T>G NP_005546.2:n.1424+2T>G
NM_005555.4:c.1424+2T>G MANE Select NP_005546.2:n.1424+2T>G
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