Canonical Allele Identifier: CA2618928069
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488132-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488132A>G , CM000674.2:g.52488132A>G GRCh38
NC_000012.11:g.52881916A>G , CM000674.1:g.52881916A>G GRCh37
NC_000012.10:g.51168183A>G NCBI36
NG_008298.1:g.10266T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1425-29T>C MANE Select ENSP00000369317.3:n.1425-29T>C
ENST00000330722.6:c.1425-29T>C ENSP00000369317.3:n.1425-29T>C
NM_005554.3:c.1425-29T>C NP_005545.1:n.1425-29T>C
NM_005554.4:c.1425-29T>C MANE Select NP_005545.1:n.1425-29T>C
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