Canonical Allele Identifier: CA384954762
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1258506758
gnomAD v4: 12-52488533-C-G
MyVariant Identifiers: chr12:g.52882317C>G (hg19) chr12:g.52488533C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488533C>G , CM000674.2:g.52488533C>G GRCh38
NC_000012.11:g.52882317C>G , CM000674.1:g.52882317C>G GRCh37
NC_000012.10:g.51168584C>G NCBI36
NG_008298.1:g.9865G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1219G>C MANE Select ENSP00000369317.3:p.Ala407Pro
ENST00000330722.6:c.1219G>C ENSP00000369317.3:p.Ala407Pro
NM_005554.3:c.1219G>C NP_005545.1:p.Ala407Pro
NM_005554.4:c.1219G>C MANE Select NP_005545.1:p.Ala407Pro
Search 100 bp 5'
Search 100 bp 3'