Canonical Allele Identifier: CA6582260
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2643027
ClinVar RCV Id: RCV003390244
dbSNP Id: rs11836126
ExAC: 12:52886513 G / C
gnomAD v2: 12-52886513-G-C
gnomAD v3: 12-52492729-G-C
gnomAD v4: 12-52492729-G-C
MyVariant Identifiers: chr12:g.52886513G>C (hg19) chr12:g.52492729G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492729G>C , CM000674.2:g.52492729G>C GRCh38
NC_000012.11:g.52886513G>C , CM000674.1:g.52886513G>C GRCh37
NC_000012.10:g.51172780G>C NCBI36
NG_008298.1:g.5669C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.460C>G MANE Select ENSP00000369317.3:p.Pro154Ala
ENST00000330722.6:c.460C>G ENSP00000369317.3:p.Pro154Ala
NM_005554.3:c.460C>G NP_005545.1:p.Pro154Ala
NM_005554.4:c.460C>G MANE Select NP_005545.1:p.Pro154Ala
Search 100 bp 5'
Search 100 bp 3'