Canonical Allele Identifier: CA6581790
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs759582849
ExAC: 12:52881725 T / C
gnomAD v2: 12-52881725-T-C
gnomAD v4: 12-52487941-T-C
MyVariant Identifiers: chr12:g.52881725T>C (hg19) chr12:g.52487941T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487941T>C , CM000674.2:g.52487941T>C GRCh38
NC_000012.11:g.52881725T>C , CM000674.1:g.52881725T>C GRCh37
NC_000012.10:g.51167992T>C NCBI36
NG_008298.1:g.10457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1474A>G MANE Select ENSP00000369317.3:p.Thr492Ala
ENST00000330722.6:c.1474A>G ENSP00000369317.3:p.Thr492Ala
NM_005554.3:c.1474A>G NP_005545.1:p.Thr492Ala
NM_005554.4:c.1474A>G MANE Select NP_005545.1:p.Thr492Ala
Search 100 bp 5'
Search 100 bp 3'