Canonical Allele Identifier: CA2618927925
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488016-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488016G>C , CM000674.2:g.52488016G>C GRCh38
NC_000012.11:g.52881800G>C , CM000674.1:g.52881800G>C GRCh37
NC_000012.10:g.51168067G>C NCBI36
NG_008298.1:g.10382C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1459+53C>G MANE Select ENSP00000369317.3:n.1459+53C>G
ENST00000330722.6:c.1459+53C>G ENSP00000369317.3:n.1459+53C>G
NM_005554.3:c.1459+53C>G NP_005545.1:n.1459+53C>G
NM_005554.4:c.1459+53C>G MANE Select NP_005545.1:n.1459+53C>G
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