Canonical Allele Identifier: CA689835557
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1461496320
gnomAD v3: 12-52520409-A-G
gnomAD v4: 12-52520409-A-G
MyVariant Identifiers: chr12:g.52914193A>G (hg19) chr12:g.52520409A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520409A>G , CM000674.2:g.52520409A>G GRCh38
NC_000012.11:g.52914193A>G , CM000674.1:g.52914193A>G GRCh37
NC_000012.10:g.51200460A>G NCBI36
NG_008297.1:g.5051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.8:c.-113T>C ENSP00000252242.4:n.-113T>C
ENST00000546577.1:c.-25T>C ENSP00000449651.1:n.-25T>C
NM_000424.3:c.-113T>C NP_000415.2:n.-113T>C
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