Canonical Allele Identifier: CA2795999522
Gene: KRT6A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488032G>T , CM000674.2:g.52488032G>T GRCh38
NC_000012.11:g.52881816G>T , CM000674.1:g.52881816G>T GRCh37
NC_000012.10:g.51168083G>T NCBI36
NG_008298.1:g.10366C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1459+37C>A MANE Select ENSP00000369317.3:n.1459+37C>A
ENST00000330722.6:c.1459+37C>A ENSP00000369317.3:n.1459+37C>A
NM_005554.3:c.1459+37C>A NP_005545.1:n.1459+37C>A
NM_005554.4:c.1459+37C>A MANE Select NP_005545.1:n.1459+37C>A
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