Canonical Allele Identifier: CA6581791
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs769828086
ExAC: 12:52881734 C / T
gnomAD v2: 12-52881734-C-T
gnomAD v4: 12-52487950-C-T
MyVariant Identifiers: chr12:g.52881734C>T (hg19) chr12:g.52487950C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487950C>T , CM000674.2:g.52487950C>T GRCh38
NC_000012.11:g.52881734C>T , CM000674.1:g.52881734C>T GRCh37
NC_000012.10:g.51168001C>T NCBI36
NG_008298.1:g.10448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1465G>A MANE Select ENSP00000369317.3:p.Val489Met
ENST00000330722.6:c.1465G>A ENSP00000369317.3:p.Val489Met
NM_005554.3:c.1465G>A NP_005545.1:p.Val489Met
NM_005554.4:c.1465G>A MANE Select NP_005545.1:p.Val489Met
Search 100 bp 5'
Search 100 bp 3'