Canonical Allele Identifier: CA237229729
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs867892735
gnomAD v2: 12-52914194-T-C
gnomAD v3: 12-52520410-T-C
gnomAD v4: 12-52520410-T-C
MyVariant Identifiers: chr12:g.52914194T>C (hg19) chr12:g.52520410T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520410T>C , CM000674.2:g.52520410T>C GRCh38
NC_000012.11:g.52914194T>C , CM000674.1:g.52914194T>C GRCh37
NC_000012.10:g.51200461T>C NCBI36
NG_008297.1:g.5050A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.8:c.-114A>G ENSP00000252242.4:n.-114A>G
ENST00000546577.1:c.-26A>G ENSP00000449651.1:n.-26A>G
NM_000424.3:c.-114A>G NP_000415.2:n.-114A>G
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