Canonical Allele Identifier: CA6582420
Gene: KRT5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52515040G>A
GRCh37 chr12:g.52908824G>A
gnomAD v2:
12:52908824 G / A
gnomAD v3:
12:52515040 G / A
gnomAD v4:
chr12-52515040-G-A
Joint Max Group AF 0.00006044 (NFE)
Genomes Max Group AF 0.00006817 (NFE)
Exomes Max Group AF 0.0000565 (NFE)
ClinVar RCV:
RCV000256176
RCV003401215
ClinVar Variation:
265219
dbSNP:
754242209
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52515040G>A , CM000674.2:g.52515040G>A GRCh38
NC_000012.11:g.52908824G>A , CM000674.1:g.52908824G>A GRCh37
NC_000012.10:g.51195091G>A NCBI36
NG_008297.1:g.10420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1675C>T MANE Select ENSP00000252242.4:p.Arg559Ter
ENST00000252242.8:c.1675C>T ENSP00000252242.4:p.Arg559Ter
ENST00000552952.1:n.600C>T
NM_000424.3:c.1675C>T NP_000415.2:p.Arg559Ter
NM_000424.4:c.1675C>T MANE Select NP_000415.2:p.Arg559Ter
Search 100 bp 5'
Search 100 bp 3'