Canonical Allele Identifier: CA6581916
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2046245
ClinVar RCV Id: RCV002913552
dbSNP Id: rs776551928
ExAC: 12:52882325 T / C
gnomAD v2: 12-52882325-T-C
gnomAD v3: 12-52488541-T-C
gnomAD v4: 12-52488541-T-C
MyVariant Identifiers: chr12:g.52882325T>C (hg19) chr12:g.52488541T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488541T>C , CM000674.2:g.52488541T>C GRCh38
NC_000012.11:g.52882325T>C , CM000674.1:g.52882325T>C GRCh37
NC_000012.10:g.51168592T>C NCBI36
NG_008298.1:g.9857A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1211A>G MANE Select ENSP00000369317.3:p.Asn404Ser
ENST00000330722.6:c.1211A>G ENSP00000369317.3:p.Asn404Ser
NM_005554.3:c.1211A>G NP_005545.1:p.Asn404Ser
NM_005554.4:c.1211A>G MANE Select NP_005545.1:p.Asn404Ser
Search 100 bp 5'
Search 100 bp 3'