Canonical Allele Identifier: CA689838385
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1483359656
gnomAD v3: 12-52492450-G-A
gnomAD v4: 12-52492450-G-A
MyVariant Identifiers: chr12:g.52886234G>A (hg19) chr12:g.52492450G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492450G>A , CM000674.2:g.52492450G>A GRCh38
NC_000012.11:g.52886234G>A , CM000674.1:g.52886234G>A GRCh37
NC_000012.10:g.51172501G>A NCBI36
NG_008298.1:g.5948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.540+199C>T MANE Select ENSP00000369317.3:n.540+199C>T
ENST00000330722.6:c.540+199C>T ENSP00000369317.3:n.540+199C>T
ENST00000549898.5:n.61+199C>T
NM_005554.3:c.540+199C>T NP_005545.1:n.540+199C>T
NM_005554.4:c.540+199C>T MANE Select NP_005545.1:n.540+199C>T
Search 100 bp 5'
Search 100 bp 3'