Canonical Allele Identifier: CA480069795
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1358314089
gnomAD v2: 12-52886448-G-T
gnomAD v3: 12-52492664-G-T
gnomAD v4: 12-52492664-G-T
MyVariant Identifiers: chr12:g.52886448G>T (hg19) chr12:g.52492664G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492664G>T , CM000674.2:g.52492664G>T GRCh38
NC_000012.11:g.52886448G>T , CM000674.1:g.52886448G>T GRCh37
NC_000012.10:g.51172715G>T NCBI36
NG_008298.1:g.5734C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.525C>A MANE Select ENSP00000369317.3:p.Ala175=
ENST00000330722.6:c.525C>A ENSP00000369317.3:p.Ala175=
ENST00000549898.5:n.46C>A
NM_005554.3:c.525C>A NP_005545.1:p.Ala175=
NM_005554.4:c.525C>A MANE Select NP_005545.1:p.Ala175=
Search 100 bp 5'
Search 100 bp 3'