Canonical Allele Identifier: CA6582666
Gene: KRT5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52517695G>A
GRCh37 chr12:g.52911479G>A
gnomAD v2:
12:52911479 G / A
gnomAD v3:
12:52517695 G / A
gnomAD v4:
chr12-52517695-G-A
Joint Max Group AF 0.00013667 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.0001397 (NFE)
dbSNP:
59730172
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52517695G>A , CM000674.2:g.52517695G>A GRCh38
NC_000012.11:g.52911479G>A , CM000674.1:g.52911479G>A GRCh37
NC_000012.10:g.51197746G>A NCBI36
NG_008297.1:g.7765C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.987C>T MANE Select ENSP00000252242.4:p.Asn329=
ENST00000252242.8:c.987C>T ENSP00000252242.4:p.Asn329=
ENST00000547890.5:n.116C>T
ENST00000548409.5:c.109C>T
ENST00000549511.5:n.194C>T
ENST00000551013.1:n.625C>T
ENST00000551188.5:c.430C>T
ENST00000552629.5:n.1085C>T
NM_000424.3:c.987C>T NP_000415.2:p.Asn329=
NM_000424.4:c.987C>T MANE Select NP_000415.2:p.Asn329=
Search 100 bp 5'
Search 100 bp 3'