Canonical Allele Identifier: CA480069756
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1471268534
gnomAD v2: 12-52910555-C-T
gnomAD v3: 12-52516771-C-T
gnomAD v4: 12-52516771-C-T
MyVariant Identifiers: chr12:g.52910555C>T (hg19) chr12:g.52516771C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516771C>T , CM000674.2:g.52516771C>T GRCh38
NC_000012.11:g.52910555C>T , CM000674.1:g.52910555C>T GRCh37
NC_000012.10:g.51196822C>T NCBI36
NG_008297.1:g.8689G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1305G>A MANE Select ENSP00000252242.4:p.Leu435=
ENST00000252242.8:c.1305G>A ENSP00000252242.4:p.Leu435=
ENST00000547890.5:n.683G>A
ENST00000548409.5:c.427G>A
ENST00000549511.5:n.512G>A
ENST00000552629.5:n.1403G>A
NM_000424.3:c.1305G>A NP_000415.2:p.Leu435=
NM_000424.4:c.1305G>A MANE Select NP_000415.2:p.Leu435=
Search 100 bp 5'
Search 100 bp 3'