Canonical Allele Identifier: CA384952972
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1230455031
gnomAD v3: 12-52487934-G-T
gnomAD v4: 12-52487934-G-T
MyVariant Identifiers: chr12:g.52881718G>T (hg19) chr12:g.52487934G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1481C>A MANE Select ENSP00000369317.3:p.Ser494Tyr
ENST00000330722.6:c.1481C>A ENSP00000369317.3:p.Ser494Tyr
NM_005554.3:c.1481C>A NP_005545.1:p.Ser494Tyr
NM_005554.4:c.1481C>A MANE Select NP_005545.1:p.Ser494Tyr
Search 100 bp 5'
Search 100 bp 3'