Canonical Allele Identifier: CA605240676
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1222866184
gnomAD v2: 12-52881785-A-T
gnomAD v3: 12-52488001-A-T
gnomAD v4: 12-52488001-A-T
MyVariant Identifiers: chr12:g.52881785A>T (hg19) chr12:g.52488001A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488001A>T , CM000674.2:g.52488001A>T GRCh38
NC_000012.11:g.52881785A>T , CM000674.1:g.52881785A>T GRCh37
NC_000012.10:g.51168052A>T NCBI36
NG_008298.1:g.10397T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1460-46T>A MANE Select ENSP00000369317.3:n.1460-46T>A
ENST00000330722.6:c.1460-46T>A ENSP00000369317.3:n.1460-46T>A
NM_005554.3:c.1460-46T>A NP_005545.1:n.1460-46T>A
NM_005554.4:c.1460-46T>A MANE Select NP_005545.1:n.1460-46T>A
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