Canonical Allele Identifier: CA689834848
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1407685915
gnomAD v4: 12-52488268-C-T
MyVariant Identifiers: chr12:g.52882052C>T (hg19) chr12:g.52488268C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488268C>T , CM000674.2:g.52488268C>T GRCh38
NC_000012.11:g.52882052C>T , CM000674.1:g.52882052C>T GRCh37
NC_000012.10:g.51168319C>T NCBI36
NG_008298.1:g.10130G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.1424+60G>A MANE Select ENSP00000369317.3:n.1424+60G>A
ENST00000330722.6:c.1424+60G>A ENSP00000369317.3:n.1424+60G>A
NM_005554.3:c.1424+60G>A NP_005545.1:n.1424+60G>A
NM_005554.4:c.1424+60G>A MANE Select NP_005545.1:n.1424+60G>A
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