Canonical Allele Identifier: CA6581766
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs749077023
ExAC: 12:52881640 C / T
gnomAD v2: 12-52881640-C-T
gnomAD v4: 12-52487856-C-T
MyVariant Identifiers: chr12:g.52881640C>T (hg19) chr12:g.52487856C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487856C>T , CM000674.2:g.52487856C>T GRCh38
NC_000012.11:g.52881640C>T , CM000674.1:g.52881640C>T GRCh37
NC_000012.10:g.51167907C>T NCBI36
NG_008298.1:g.10542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1559G>A MANE Select ENSP00000369317.3:p.Gly520Asp
ENST00000330722.6:c.1559G>A ENSP00000369317.3:p.Gly520Asp
NM_005554.3:c.1559G>A NP_005545.1:p.Gly520Asp
NM_005554.4:c.1559G>A MANE Select NP_005545.1:p.Gly520Asp
Search 100 bp 5'
Search 100 bp 3'