Canonical Allele Identifier: CA6581923
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2046249
ClinVar RCV Id: RCV002913556
dbSNP Id: rs570870907
ExAC: 12:52882340 A / G
gnomAD v2: 12-52882340-A-G
gnomAD v3: 12-52488556-A-G
gnomAD v4: 12-52488556-A-G
MyVariant Identifiers: chr12:g.52882340A>G (hg19) chr12:g.52488556A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488556A>G , CM000674.2:g.52488556A>G GRCh38
NC_000012.11:g.52882340A>G , CM000674.1:g.52882340A>G GRCh37
NC_000012.10:g.51168607A>G NCBI36
NG_008298.1:g.9842T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1204-8T>C MANE Select ENSP00000369317.3:n.1204-8T>C
ENST00000330722.6:c.1204-8T>C ENSP00000369317.3:n.1204-8T>C
NM_005554.3:c.1204-8T>C NP_005545.1:n.1204-8T>C
NM_005554.4:c.1204-8T>C MANE Select NP_005545.1:n.1204-8T>C
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