Canonical Allele Identifier: CA689838386
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1238794812
MyVariant Identifiers: chr12:g.52886239G>A (hg19) chr12:g.52492455G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492455G>A , CM000674.2:g.52492455G>A GRCh38
NC_000012.11:g.52886239G>A , CM000674.1:g.52886239G>A GRCh37
NC_000012.10:g.51172506G>A NCBI36
NG_008298.1:g.5943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.540+194C>T MANE Select ENSP00000369317.3:n.540+194C>T
ENST00000330722.6:c.540+194C>T ENSP00000369317.3:n.540+194C>T
ENST00000549898.5:n.61+194C>T
NM_005554.3:c.540+194C>T NP_005545.1:n.540+194C>T
NM_005554.4:c.540+194C>T MANE Select NP_005545.1:n.540+194C>T
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