Canonical Allele Identifier: CA6581904

Gene: KRT6A

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)

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