Canonical Allele Identifier: CA6581912
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 3116561
ClinVar RCV Id: RCV004414409
dbSNP Id: rs201401681
ExAC: 12:52882313 G / A
gnomAD v2: 12-52882313-G-A
gnomAD v3: 12-52488529-G-A
gnomAD v4: 12-52488529-G-A
MyVariant Identifiers: chr12:g.52882313G>A (hg19) chr12:g.52488529G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488529G>A , CM000674.2:g.52488529G>A GRCh38
NC_000012.11:g.52882313G>A , CM000674.1:g.52882313G>A GRCh37
NC_000012.10:g.51168580G>A NCBI36
NG_008298.1:g.9869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1223C>T MANE Select ENSP00000369317.3:p.Ala408Val
ENST00000330722.6:c.1223C>T ENSP00000369317.3:p.Ala408Val
NM_005554.3:c.1223C>T NP_005545.1:p.Ala408Val
NM_005554.4:c.1223C>T MANE Select NP_005545.1:p.Ala408Val
Search 100 bp 5'
Search 100 bp 3'