Canonical Allele Identifier: CA124167

Gene: KRT3

Linked Data

• ClinVar Variation Id: 14632
• ClinVar RCV Id: RCV000015738 ; RCV000057204
• dbSNP Id: rs57872071
• gnomAD v2: 12-53185000-C-T
• gnomAD v3: 12-52791216-C-T
• gnomAD v4: 12-52791216-C-T
• MyVariant Identifiers: chr12:g.53185000C>T (hg19) ; chr12:g.52791216C>T (hg38)
• PubMed: PMID:9171831

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52791216C>T , CM000674.2:g.52791216C>T	GRCh38
NC_000012.11:g.53185000C>T , CM000674.1:g.53185000C>T	GRCh37
NC_000012.10:g.51471267C>T	NCBI36
NG_008350.1:g.9893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417996.2:c.1525G>A MANE Select	ENSP00000413479.2:p.Glu509Lys
NM_057088.2:c.1525G>A	NP_476429.2:p.Glu509Lys
XM_011538324.1:c.1165G>A	XP_011536626.1:p.Glu389Lys
XM_024448975.1:c.1789G>A	XP_024304743.1:p.Glu597Lys
NM_057088.3:c.1525G>A MANE Select	NP_476429.2:p.Glu509Lys