Canonical Allele Identifier: CA384952969
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52487934-G-A
MyVariant Identifiers: chr12:g.52881718G>A (hg19) chr12:g.52487934G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487934G>A , CM000674.2:g.52487934G>A GRCh38
NC_000012.11:g.52881718G>A , CM000674.1:g.52881718G>A GRCh37
NC_000012.10:g.51167985G>A NCBI36
NG_008298.1:g.10464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1481C>T MANE Select ENSP00000369317.3:p.Ser494Phe
ENST00000330722.6:c.1481C>T ENSP00000369317.3:p.Ser494Phe
NM_005554.3:c.1481C>T NP_005545.1:p.Ser494Phe
NM_005554.4:c.1481C>T MANE Select NP_005545.1:p.Ser494Phe
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