Canonical Allele Identifier: CA6580411
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs751265743
ExAC: 12:52841547 G / A
gnomAD v2: 12-52841547-G-A
gnomAD v3: 12-52447763-G-A
gnomAD v4: 12-52447763-G-A
MyVariant Identifiers: chr12:g.52841547G>A (hg19) chr12:g.52447763G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447763G>A , CM000674.2:g.52447763G>A GRCh38
NC_000012.11:g.52841547G>A , CM000674.1:g.52841547G>A GRCh37
NC_000012.10:g.51127814G>A NCBI36
NG_008299.1:g.9364C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252252.4:c.1424+15C>T MANE Select ENSP00000252252.3:n.1424+15C>T
ENST00000252252.3:c.1424+15C>T ENSP00000252252.3:n.1424+15C>T
NM_005555.3:c.1424+15C>T NP_005546.2:n.1424+15C>T
NM_005555.4:c.1424+15C>T MANE Select NP_005546.2:n.1424+15C>T
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