Canonical Allele Identifier: CA6581885
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs752017402
ExAC: 12:52882218 C / A
gnomAD v2: 12-52882218-C-A
gnomAD v4: 12-52488434-C-A
MyVariant Identifiers: chr12:g.52882218C>A (hg19) chr12:g.52488434C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488434C>A , CM000674.2:g.52488434C>A GRCh38
NC_000012.11:g.52882218C>A , CM000674.1:g.52882218C>A GRCh37
NC_000012.10:g.51168485C>A NCBI36
NG_008298.1:g.9964G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1318G>T MANE Select ENSP00000369317.3:p.Asp440Tyr
ENST00000330722.6:c.1318G>T ENSP00000369317.3:p.Asp440Tyr
NM_005554.3:c.1318G>T NP_005545.1:p.Asp440Tyr
NM_005554.4:c.1318G>T MANE Select NP_005545.1:p.Asp440Tyr
Search 100 bp 5'
Search 100 bp 3'