Canonical Allele Identifier: CA237234737
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs200653000
gnomAD v3: 12-52492599-C-T
gnomAD v4: 12-52492599-C-T
MyVariant Identifiers: chr12:g.52886383C>T (hg19) chr12:g.52492599C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492599C>T , CM000674.2:g.52492599C>T GRCh38
NC_000012.11:g.52886383C>T , CM000674.1:g.52886383C>T GRCh37
NC_000012.10:g.51172650C>T NCBI36
NG_008298.1:g.5799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.540+50G>A MANE Select ENSP00000369317.3:n.540+50G>A
ENST00000330722.6:c.540+50G>A ENSP00000369317.3:n.540+50G>A
ENST00000549898.5:n.61+50G>A
NM_005554.3:c.540+50G>A NP_005545.1:n.540+50G>A
NM_005554.4:c.540+50G>A MANE Select NP_005545.1:n.540+50G>A
Search 100 bp 5'
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