Canonical Allele Identifier: CA605240667
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1367934666
gnomAD v2: 12-52882065-C-G
gnomAD v4: 12-52488281-C-G
MyVariant Identifiers: chr12:g.52882065C>G (hg19) chr12:g.52488281C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488281C>G , CM000674.2:g.52488281C>G GRCh38
NC_000012.11:g.52882065C>G , CM000674.1:g.52882065C>G GRCh37
NC_000012.10:g.51168332C>G NCBI36
NG_008298.1:g.10117G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.1424+47G>C MANE Select ENSP00000369317.3:n.1424+47G>C
ENST00000330722.6:c.1424+47G>C ENSP00000369317.3:n.1424+47G>C
NM_005554.3:c.1424+47G>C NP_005545.1:n.1424+47G>C
NM_005554.4:c.1424+47G>C MANE Select NP_005545.1:n.1424+47G>C
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