Canonical Allele Identifier: CA237233880
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs553044027
gnomAD v2: 12-52841508-C-T
gnomAD v3: 12-52447724-C-T
gnomAD v4: 12-52447724-C-T
MyVariant Identifiers: chr12:g.52841508C>T (hg19) chr12:g.52447724C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447724C>T , CM000674.2:g.52447724C>T GRCh38
NC_000012.11:g.52841508C>T , CM000674.1:g.52841508C>T GRCh37
NC_000012.10:g.51127775C>T NCBI36
NG_008299.1:g.9403G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252252.4:c.1424+54G>A MANE Select ENSP00000252252.3:n.1424+54G>A
ENST00000252252.3:c.1424+54G>A ENSP00000252252.3:n.1424+54G>A
NM_005555.3:c.1424+54G>A NP_005546.2:n.1424+54G>A
NM_005555.4:c.1424+54G>A MANE Select NP_005546.2:n.1424+54G>A
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