Canonical Allele Identifier: CA479852324
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs776689308
gnomAD v2: 12-52881672-C-G
gnomAD v3: 12-52487888-C-G
gnomAD v4: 12-52487888-C-G
MyVariant Identifiers: chr12:g.52881672C>G (hg19) chr12:g.52487888C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487888C>G , CM000674.2:g.52487888C>G GRCh38
NC_000012.11:g.52881672C>G , CM000674.1:g.52881672C>G GRCh37
NC_000012.10:g.51167939C>G NCBI36
NG_008298.1:g.10510G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1527G>C MANE Select ENSP00000369317.3:p.Leu509=
ENST00000330722.6:c.1527G>C ENSP00000369317.3:p.Leu509=
NM_005554.3:c.1527G>C NP_005545.1:p.Leu509=
NM_005554.4:c.1527G>C MANE Select NP_005545.1:p.Leu509=
Search 100 bp 5'
Search 100 bp 3'