Canonical Allele Identifier: CA384953511
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1160271787
gnomAD v2: 12-52882181-A-T
gnomAD v3: 12-52488397-A-T
gnomAD v4: 12-52488397-A-T
MyVariant Identifiers: chr12:g.52882181A>T (hg19) chr12:g.52488397A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488397A>T , CM000674.2:g.52488397A>T GRCh38
NC_000012.11:g.52882181A>T , CM000674.1:g.52882181A>T GRCh37
NC_000012.10:g.51168448A>T NCBI36
NG_008298.1:g.10001T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1355T>A MANE Select ENSP00000369317.3:p.Met452Lys
ENST00000330722.6:c.1355T>A ENSP00000369317.3:p.Met452Lys
NM_005554.3:c.1355T>A NP_005545.1:p.Met452Lys
NM_005554.4:c.1355T>A MANE Select NP_005545.1:p.Met452Lys
Search 100 bp 5'
Search 100 bp 3'