Canonical Allele Identifier: CA6582238

Gene: KRT6A

Linked Data

• dbSNP Id: rs780671348
• ExAC: 12:52886401 A / G
• gnomAD v2: 12-52886401-A-G
• gnomAD v3: 12-52492617-A-G
• gnomAD v4: 12-52492617-A-G
• MyVariant Identifiers: chr12:g.52886401A>G (hg19) ; chr12:g.52492617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52492617A>G , CM000674.2:g.52492617A>G	GRCh38
NC_000012.11:g.52886401A>G , CM000674.1:g.52886401A>G	GRCh37
NC_000012.10:g.51172668A>G	NCBI36
NG_008298.1:g.5781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.540+32T>C MANE Select	ENSP00000369317.3:n.540+32T>C
ENST00000330722.6:c.540+32T>C	ENSP00000369317.3:n.540+32T>C
ENST00000549898.5:n.61+32T>C
NM_005554.3:c.540+32T>C	NP_005545.1:n.540+32T>C
NM_005554.4:c.540+32T>C MANE Select	NP_005545.1:n.540+32T>C