Canonical Allele Identifier: CA6581914
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs562064061
ExAC: 12:52882314 C / T
gnomAD v2: 12-52882314-C-T
gnomAD v3: 12-52488530-C-T
gnomAD v4: 12-52488530-C-T
MyVariant Identifiers: chr12:g.52882314C>T (hg19) chr12:g.52488530C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488530C>T , CM000674.2:g.52488530C>T GRCh38
NC_000012.11:g.52882314C>T , CM000674.1:g.52882314C>T GRCh37
NC_000012.10:g.51168581C>T NCBI36
NG_008298.1:g.9868G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1222G>A MANE Select ENSP00000369317.3:p.Ala408Thr
ENST00000330722.6:c.1222G>A ENSP00000369317.3:p.Ala408Thr
NM_005554.3:c.1222G>A NP_005545.1:p.Ala408Thr
NM_005554.4:c.1222G>A MANE Select NP_005545.1:p.Ala408Thr
Search 100 bp 5'
Search 100 bp 3'