Canonical Allele Identifier: CA6581799
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs375973006
ExAC: 12:52881763 C / A
gnomAD v2: 12-52881763-C-A
gnomAD v3: 12-52487979-C-A
gnomAD v4: 12-52487979-C-A
MyVariant Identifiers: chr12:g.52881763C>A (hg19) chr12:g.52487979C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487979C>A , CM000674.2:g.52487979C>A GRCh38
NC_000012.11:g.52881763C>A , CM000674.1:g.52881763C>A GRCh37
NC_000012.10:g.51168030C>A NCBI36
NG_008298.1:g.10419G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1460-24G>T MANE Select ENSP00000369317.3:n.1460-24G>T
ENST00000330722.6:c.1460-24G>T ENSP00000369317.3:n.1460-24G>T
NM_005554.3:c.1460-24G>T NP_005545.1:n.1460-24G>T
NM_005554.4:c.1460-24G>T MANE Select NP_005545.1:n.1460-24G>T
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