Canonical Allele Identifier: CA689835545
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1295327229
gnomAD v3: 12-52520390-C-T
gnomAD v4: 12-52520390-C-T
MyVariant Identifiers: chr12:g.52914174C>T (hg19) chr12:g.52520390C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520390C>T , CM000674.2:g.52520390C>T GRCh38
NC_000012.11:g.52914174C>T , CM000674.1:g.52914174C>T GRCh37
NC_000012.10:g.51200441C>T NCBI36
NG_008297.1:g.5070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.-94G>A MANE Select ENSP00000252242.4:n.-94G>A
ENST00000252242.8:c.-94G>A ENSP00000252242.4:n.-94G>A
ENST00000546577.1:c.-13+7G>A ENSP00000449651.1:n.-13+7G>A
ENST00000551275.1:c.-94G>A ENSP00000448041.1:n.-94G>A
ENST00000552629.5:n.5G>A
NM_000424.3:c.-94G>A NP_000415.2:n.-94G>A
NM_000424.4:c.-94G>A MANE Select NP_000415.2:n.-94G>A
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