Canonical Allele Identifier: CA6581777
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2410183
ClinVar RCV Id: RCV002789703
dbSNP Id: rs764320645
ExAC: 12:52881689 C / T
gnomAD v2: 12-52881689-C-T
gnomAD v3: 12-52487905-C-T
gnomAD v4: 12-52487905-C-T
MyVariant Identifiers: chr12:g.52881689C>T (hg19) chr12:g.52487905C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487905C>T , CM000674.2:g.52487905C>T GRCh38
NC_000012.11:g.52881689C>T , CM000674.1:g.52881689C>T GRCh37
NC_000012.10:g.51167956C>T NCBI36
NG_008298.1:g.10493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1510G>A MANE Select ENSP00000369317.3:p.Gly504Ser
ENST00000330722.6:c.1510G>A ENSP00000369317.3:p.Gly504Ser
NM_005554.3:c.1510G>A NP_005545.1:p.Gly504Ser
NM_005554.4:c.1510G>A MANE Select NP_005545.1:p.Gly504Ser
Search 100 bp 5'
Search 100 bp 3'