Canonical Allele Identifier: CA384954614
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1170851966
gnomAD v2: 12-52882297-C-G
gnomAD v4: 12-52488513-C-G
MyVariant Identifiers: chr12:g.52882297C>G (hg19) chr12:g.52488513C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488513C>G , CM000674.2:g.52488513C>G GRCh38
NC_000012.11:g.52882297C>G , CM000674.1:g.52882297C>G GRCh37
NC_000012.10:g.51168564C>G NCBI36
NG_008298.1:g.9885G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1239G>C MANE Select ENSP00000369317.3:p.Glu413Asp
ENST00000330722.6:c.1239G>C ENSP00000369317.3:p.Glu413Asp
NM_005554.3:c.1239G>C NP_005545.1:p.Glu413Asp
NM_005554.4:c.1239G>C MANE Select NP_005545.1:p.Glu413Asp
Search 100 bp 5'
Search 100 bp 3'