Canonical Allele Identifier: CA605071428
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1410400657
gnomAD v2: 12-52914094-T-C
gnomAD v4: 12-52520310-T-C
MyVariant Identifiers: chr12:g.52914094T>C (hg19) chr12:g.52520310T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520310T>C , CM000674.2:g.52520310T>C GRCh38
NC_000012.11:g.52914094T>C , CM000674.1:g.52914094T>C GRCh37
NC_000012.10:g.51200361T>C NCBI36
NG_008297.1:g.5150A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.-14A>G MANE Select ENSP00000252242.4:n.-14A>G
ENST00000252242.8:c.-14A>G ENSP00000252242.4:n.-14A>G
ENST00000546577.1:c.-12-2A>G ENSP00000449651.1:n.-12-2A>G
ENST00000549420.1:c.-14A>G ENSP00000447209.1:n.-14A>G
ENST00000551275.1:c.-14A>G ENSP00000448041.1:n.-14A>G
ENST00000552629.5:n.85A>G
NM_000424.3:c.-14A>G NP_000415.2:n.-14A>G
NM_000424.4:c.-14A>G MANE Select NP_000415.2:n.-14A>G
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