Canonical Allele Identifier: CA237234645
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs964896758
gnomAD v2: 12-52886263-G-A
gnomAD v3: 12-52492479-G-A
gnomAD v4: 12-52492479-G-A
MyVariant Identifiers: chr12:g.52886263G>A (hg19) chr12:g.52492479G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492479G>A , CM000674.2:g.52492479G>A GRCh38
NC_000012.11:g.52886263G>A , CM000674.1:g.52886263G>A GRCh37
NC_000012.10:g.51172530G>A NCBI36
NG_008298.1:g.5919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.540+170C>T MANE Select ENSP00000369317.3:n.540+170C>T
ENST00000330722.6:c.540+170C>T ENSP00000369317.3:n.540+170C>T
ENST00000549898.5:n.61+170C>T
NM_005554.3:c.540+170C>T NP_005545.1:n.540+170C>T
NM_005554.4:c.540+170C>T MANE Select NP_005545.1:n.540+170C>T
Search 100 bp 5'
Search 100 bp 3'