Canonical Allele Identifier: CA6581920
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2046247
ClinVar RCV Id: RCV002913554
dbSNP Id: rs527752387
ExAC: 12:52882335 G / A
gnomAD v2: 12-52882335-G-A
gnomAD v3: 12-52488551-G-A
gnomAD v4: 12-52488551-G-A
MyVariant Identifiers: chr12:g.52882335G>A (hg19) chr12:g.52488551G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488551G>A , CM000674.2:g.52488551G>A GRCh38
NC_000012.11:g.52882335G>A , CM000674.1:g.52882335G>A GRCh37
NC_000012.10:g.51168602G>A NCBI36
NG_008298.1:g.9847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1204-3C>T MANE Select ENSP00000369317.3:n.1204-3C>T
ENST00000330722.6:c.1204-3C>T ENSP00000369317.3:n.1204-3C>T
NM_005554.3:c.1204-3C>T NP_005545.1:n.1204-3C>T
NM_005554.4:c.1204-3C>T MANE Select NP_005545.1:n.1204-3C>T
Search 100 bp 5'
Search 100 bp 3'