Canonical Allele Identifier: CA6581797
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs368618238
ExAC: 12:52881762 A / T
gnomAD v2: 12-52881762-A-T
gnomAD v4: 12-52487978-A-T
MyVariant Identifiers: chr12:g.52881762A>T (hg19) chr12:g.52487978A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487978A>T , CM000674.2:g.52487978A>T GRCh38
NC_000012.11:g.52881762A>T , CM000674.1:g.52881762A>T GRCh37
NC_000012.10:g.51168029A>T NCBI36
NG_008298.1:g.10420T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1460-23T>A MANE Select ENSP00000369317.3:n.1460-23T>A
ENST00000330722.6:c.1460-23T>A ENSP00000369317.3:n.1460-23T>A
NM_005554.3:c.1460-23T>A NP_005545.1:n.1460-23T>A
NM_005554.4:c.1460-23T>A MANE Select NP_005545.1:n.1460-23T>A
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