Canonical Allele Identifier: CA6581903
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 715770
ClinVar RCV Id: RCV000888289 RCV003968083
dbSNP Id: rs61730612
ExAC: 12:52882292 C / T
gnomAD v2: 12-52882292-C-T
gnomAD v3: 12-52488508-C-T
gnomAD v4: 12-52488508-C-T
MyVariant Identifiers: chr12:g.52882292C>T (hg19) chr12:g.52488508C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488508C>T , CM000674.2:g.52488508C>T GRCh38
NC_000012.11:g.52882292C>T , CM000674.1:g.52882292C>T GRCh37
NC_000012.10:g.51168559C>T NCBI36
NG_008298.1:g.9890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1244G>A MANE Select ENSP00000369317.3:p.Arg415His
ENST00000330722.6:c.1244G>A ENSP00000369317.3:p.Arg415His
NM_005554.3:c.1244G>A NP_005545.1:p.Arg415His
NM_005554.4:c.1244G>A MANE Select NP_005545.1:p.Arg415His
Search 100 bp 5'
Search 100 bp 3'