Canonical Allele Identifier: CA217360
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66593
ClinVar RCV Id: RCV000057016
dbSNP Id: rs59642296
COSMIC: COSM1362506
MyVariant Identifiers: chr12:g.52886447A>G (hg19) chr12:g.52492663A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492663A>G , CM000674.2:g.52492663A>G GRCh38
NC_000012.11:g.52886447A>G , CM000674.1:g.52886447A>G GRCh37
NC_000012.10:g.51172714A>G NCBI36
NG_008298.1:g.5735T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.526T>C MANE Select ENSP00000369317.3:p.Ser176Pro
ENST00000330722.6:c.526T>C ENSP00000369317.3:p.Ser176Pro
ENST00000549898.5:n.47T>C
NM_005554.3:c.526T>C NP_005545.1:p.Ser176Pro
NM_005554.4:c.526T>C MANE Select NP_005545.1:p.Ser176Pro
Search 100 bp 5'
Search 100 bp 3'