Canonical Allele Identifier: CA118532

Gene: KRT85

Linked Data

• ClinVar Variation Id: 6836
• ClinVar RCV Id: RCV000056956 ; RCV000007238 ; RCV000455333
• dbSNP Id: rs61630004
• ExAC: 12:52760957 C / T
• gnomAD v2: 12-52760957-C-T
• gnomAD v3: 12-52367173-C-T
• gnomAD v4: 12-52367173-C-T
• MyVariant Identifiers: chr12:g.52760957C>T (hg19) ; chr12:g.52367173C>T (hg38)
• PubMed: PMID:16525032 ; PMID:19865094

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52367173C>T , CM000674.2:g.52367173C>T	GRCh38
NC_000012.11:g.52760957C>T , CM000674.1:g.52760957C>T	GRCh37
NC_000012.10:g.51047224C>T	NCBI36
NG_008353.1:g.5353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257901.7:c.233G>A MANE Select	ENSP00000257901.3:p.Arg78His
NM_002283.3:c.233G>A	NP_002274.1:p.Arg78His
NM_002283.4:c.233G>A MANE Select	NP_002274.1:p.Arg78His