Canonical Allele Identifier: CA6581778
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 1627766
ClinVar RCV Id: RCV002123199
dbSNP Id: rs376504088
ExAC: 12:52881690 G / A
gnomAD v2: 12-52881690-G-A
gnomAD v3: 12-52487906-G-A
gnomAD v4: 12-52487906-G-A
COSMIC: COSM3462293
MyVariant Identifiers: chr12:g.52881690G>A (hg19) chr12:g.52487906G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487906G>A , CM000674.2:g.52487906G>A GRCh38
NC_000012.11:g.52881690G>A , CM000674.1:g.52881690G>A GRCh37
NC_000012.10:g.51167957G>A NCBI36
NG_008298.1:g.10492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1509C>T MANE Select ENSP00000369317.3:p.Val503=
ENST00000330722.6:c.1509C>T ENSP00000369317.3:p.Val503=
NM_005554.3:c.1509C>T NP_005545.1:p.Val503=
NM_005554.4:c.1509C>T MANE Select NP_005545.1:p.Val503=
Search 100 bp 5'
Search 100 bp 3'