Canonical Allele Identifier: CA217336
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66573
ClinVar RCV Id: RCV000056993
dbSNP Id: rs267607469
MyVariant Identifiers: chr12:g.52882142T>C (hg19) chr12:g.52488358T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488358T>C , CM000674.2:g.52488358T>C GRCh38
NC_000012.11:g.52882142T>C , CM000674.1:g.52882142T>C GRCh37
NC_000012.10:g.51168409T>C NCBI36
NG_008298.1:g.10040A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1394A>G MANE Select ENSP00000369317.3:p.Tyr465Cys
ENST00000330722.6:c.1394A>G ENSP00000369317.3:p.Tyr465Cys
NM_005554.3:c.1394A>G NP_005545.1:p.Tyr465Cys
NM_005554.4:c.1394A>G MANE Select NP_005545.1:p.Tyr465Cys
Search 100 bp 5'
Search 100 bp 3'