Canonical Allele Identifier: CA6581816
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 724911
ClinVar RCV Id: RCV000898901
dbSNP Id: rs201148499
ExAC: 12:52881846 T / C
gnomAD v2: 12-52881846-T-C
gnomAD v3: 12-52488062-T-C
gnomAD v4: 12-52488062-T-C
MyVariant Identifiers: chr12:g.52881846T>C (hg19) chr12:g.52488062T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488062T>C , CM000674.2:g.52488062T>C GRCh38
NC_000012.11:g.52881846T>C , CM000674.1:g.52881846T>C GRCh37
NC_000012.10:g.51168113T>C NCBI36
NG_008298.1:g.10336A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1459+7A>G MANE Select ENSP00000369317.3:n.1459+7A>G
ENST00000330722.6:c.1459+7A>G ENSP00000369317.3:n.1459+7A>G
NM_005554.3:c.1459+7A>G NP_005545.1:n.1459+7A>G
NM_005554.4:c.1459+7A>G MANE Select NP_005545.1:n.1459+7A>G
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