Canonical Allele Identifier: CA6581904
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs369800257
ExAC: 12:52882293 G / A
gnomAD v2: 12-52882293-G-A
gnomAD v3: 12-52488509-G-A
gnomAD v4: 12-52488509-G-A
MyVariant Identifiers: chr12:g.52882293G>A (hg19) chr12:g.52488509G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488509G>A , CM000674.2:g.52488509G>A GRCh38
NC_000012.11:g.52882293G>A , CM000674.1:g.52882293G>A GRCh37
NC_000012.10:g.51168560G>A NCBI36
NG_008298.1:g.9889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1243C>T MANE Select ENSP00000369317.3:p.Arg415Cys
ENST00000330722.6:c.1243C>T ENSP00000369317.3:p.Arg415Cys
NM_005554.3:c.1243C>T NP_005545.1:p.Arg415Cys
NM_005554.4:c.1243C>T MANE Select NP_005545.1:p.Arg415Cys
Search 100 bp 5'
Search 100 bp 3'