Canonical Allele Identifier: CA6581905
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs750858953
ExAC: 12:52882299 C / G
gnomAD v2: 12-52882299-C-G
gnomAD v3: 12-52488515-C-G
gnomAD v4: 12-52488515-C-G
MyVariant Identifiers: chr12:g.52882299C>G (hg19) chr12:g.52488515C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488515C>G , CM000674.2:g.52488515C>G GRCh38
NC_000012.11:g.52882299C>G , CM000674.1:g.52882299C>G GRCh37
NC_000012.10:g.51168566C>G NCBI36
NG_008298.1:g.9883G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1237G>C MANE Select ENSP00000369317.3:p.Glu413Gln
ENST00000330722.6:c.1237G>C ENSP00000369317.3:p.Glu413Gln
NM_005554.3:c.1237G>C NP_005545.1:p.Glu413Gln
NM_005554.4:c.1237G>C MANE Select NP_005545.1:p.Glu413Gln
Search 100 bp 5'
Search 100 bp 3'