Canonical Allele Identifier: CA237194385
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs997920453
gnomAD v3: 12-52451363-T-A
gnomAD v4: 12-52451363-T-A
MyVariant Identifiers: chr12:g.52845147T>A (hg19) chr12:g.52451363T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451363T>A , CM000674.2:g.52451363T>A GRCh38
NC_000012.11:g.52845147T>A , CM000674.1:g.52845147T>A GRCh37
NC_000012.10:g.51131414T>A NCBI36
NG_008299.1:g.5764A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.540+176A>T MANE Select ENSP00000252252.3:n.540+176A>T
ENST00000252252.3:c.540+176A>T ENSP00000252252.3:n.540+176A>T
NM_005555.3:c.540+176A>T NP_005546.2:n.540+176A>T
NM_005555.4:c.540+176A>T MANE Select NP_005546.2:n.540+176A>T
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