Canonical Allele Identifier: CA479853888
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488543-G-C
MyVariant Identifiers: chr12:g.52882327G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488543G>C , CM000674.2:g.52488543G>C GRCh38
NC_000012.11:g.52882327G>C , CM000674.1:g.52882327G>C GRCh37
NC_000012.10:g.51168594G>C NCBI36
NG_008298.1:g.9855C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1209C>G MANE Select ENSP00000369317.3:p.Ala403=
ENST00000330722.6:c.1209C>G ENSP00000369317.3:p.Ala403=
NM_005554.3:c.1209C>G NP_005545.1:p.Ala403=
NM_005554.4:c.1209C>G MANE Select NP_005545.1:p.Ala403=
Search 100 bp 5'
Search 100 bp 3'