Canonical Allele Identifier: CA6582854
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2372305
ClinVar RCV Id: RCV002988110 RCV003738343
dbSNP Id: rs200116437
ExAC: 12:52913723 C / T
gnomAD v2: 12-52913723-C-T
gnomAD v3: 12-52519939-C-T
gnomAD v4: 12-52519939-C-T
MyVariant Identifiers: chr12:g.52913723C>T (hg19) chr12:g.52519939C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519939C>T , CM000674.2:g.52519939C>T GRCh38
NC_000012.11:g.52913723C>T , CM000674.1:g.52913723C>T GRCh37
NC_000012.10:g.51199990C>T NCBI36
NG_008297.1:g.5521G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.358G>A MANE Select ENSP00000252242.4:p.Gly120Arg
ENST00000252242.8:c.358G>A ENSP00000252242.4:p.Gly120Arg
ENST00000546577.1:c.358G>A ENSP00000449651.1:p.Gly120Arg
ENST00000549420.1:c.44-16G>A ENSP00000447209.1:n.44-16G>A
ENST00000551275.1:c.253G>A ENSP00000448041.1:p.Gly85Arg
ENST00000552629.5:n.456G>A
NM_000424.3:c.358G>A NP_000415.2:p.Gly120Arg
NM_000424.4:c.358G>A MANE Select NP_000415.2:p.Gly120Arg
Search 100 bp 5'
Search 100 bp 3'