Canonical Allele Identifier: CA6586069

Gene: KRT1

Linked Data

• dbSNP Id: rs779551366
• ExAC: 12:53069229 G / A
• gnomAD v2: 12-53069229-G-A
• gnomAD v4: 12-52675445-G-A
• MyVariant Identifiers: chr12:g.53069229G>A (hg19) ; chr12:g.53069229_53069244delinsAGAGCCGTAGCTGCTA (hg19) ; chr12:g.52675445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675445G>A , CM000674.2:g.52675445G>A	GRCh38
NC_000012.11:g.53069229G>A , CM000674.1:g.53069229G>A	GRCh37
NC_000012.10:g.51355496G>A	NCBI36
NG_008364.1:g.9963C>T
NG_008364.2:g.9963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1683C>T MANE Select	ENSP00000252244.3:p.Ser561=
NM_006121.3:c.1683C>T	NP_006112.3:p.Ser561=
NM_006121.4:c.1683C>T MANE Select	NP_006112.3:p.Ser561=