Canonical Allele Identifier: CA689831295
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs373798653
gnomAD v3: 12-52516462-C-G
gnomAD v4: 12-52516462-C-G
MyVariant Identifiers: chr12:g.52910246C>G (hg19) chr12:g.52516462C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516462C>G , CM000674.2:g.52516462C>G GRCh38
NC_000012.11:g.52910246C>G , CM000674.1:g.52910246C>G GRCh37
NC_000012.10:g.51196513C>G NCBI36
NG_008297.1:g.8998G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1439+175G>C MANE Select ENSP00000252242.4:n.1439+175G>C
ENST00000252242.8:c.1439+175G>C ENSP00000252242.4:n.1439+175G>C
ENST00000548409.5:c.561+175G>C
ENST00000549511.5:n.646+175G>C
ENST00000552629.5:n.1712G>C
NM_000424.3:c.1439+175G>C NP_000415.2:n.1439+175G>C
NM_000424.4:c.1439+175G>C MANE Select NP_000415.2:n.1439+175G>C
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