Canonical Allele Identifier: CA2618927917
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488006-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488006G>C , CM000674.2:g.52488006G>C GRCh38
NC_000012.11:g.52881790G>C , CM000674.1:g.52881790G>C GRCh37
NC_000012.10:g.51168057G>C NCBI36
NG_008298.1:g.10392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1460-51C>G MANE Select ENSP00000369317.3:n.1460-51C>G
ENST00000330722.6:c.1460-51C>G ENSP00000369317.3:n.1460-51C>G
NM_005554.3:c.1460-51C>G NP_005545.1:n.1460-51C>G
NM_005554.4:c.1460-51C>G MANE Select NP_005545.1:n.1460-51C>G
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