Canonical Allele Identifier: CA384963177
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1387270422
gnomAD v4: 12-52492653-T-C
MyVariant Identifiers: chr12:g.52886437T>C (hg19) chr12:g.52492653T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492653T>C , CM000674.2:g.52492653T>C GRCh38
NC_000012.11:g.52886437T>C , CM000674.1:g.52886437T>C GRCh37
NC_000012.10:g.51172704T>C NCBI36
NG_008298.1:g.5745A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.536A>G MANE Select ENSP00000369317.3:p.Asp179Gly
ENST00000330722.6:c.536A>G ENSP00000369317.3:p.Asp179Gly
ENST00000549898.5:n.57A>G
NM_005554.3:c.536A>G NP_005545.1:p.Asp179Gly
NM_005554.4:c.536A>G MANE Select NP_005545.1:p.Asp179Gly
Search 100 bp 5'
Search 100 bp 3'