Canonical Allele Identifier: CA384952752
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52487876-G-T
MyVariant Identifiers: chr12:g.52881660G>T (hg19) chr12:g.52487876G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487876G>T , CM000674.2:g.52487876G>T GRCh38
NC_000012.11:g.52881660G>T , CM000674.1:g.52881660G>T GRCh37
NC_000012.10:g.51167927G>T NCBI36
NG_008298.1:g.10522C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1539C>A MANE Select ENSP00000369317.3:p.Ser513Arg
ENST00000330722.6:c.1539C>A ENSP00000369317.3:p.Ser513Arg
NM_005554.3:c.1539C>A NP_005545.1:p.Ser513Arg
NM_005554.4:c.1539C>A MANE Select NP_005545.1:p.Ser513Arg
Search 100 bp 5'
Search 100 bp 3'