Canonical Allele Identifier: CA384923431
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1302350258
gnomAD v2: 12-52910434-C-T
gnomAD v4: 12-52516650-C-T
MyVariant Identifiers: chr12:g.52910434C>T (hg19) chr12:g.52516650C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516650C>T , CM000674.2:g.52516650C>T GRCh38
NC_000012.11:g.52910434C>T , CM000674.1:g.52910434C>T GRCh37
NC_000012.10:g.51196701C>T NCBI36
NG_008297.1:g.8810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1426G>A MANE Select ENSP00000252242.4:p.Gly476Ser
ENST00000252242.8:c.1426G>A ENSP00000252242.4:p.Gly476Ser
ENST00000548409.5:c.548G>A
ENST00000549511.5:n.633G>A
ENST00000552629.5:n.1524G>A
NM_000424.3:c.1426G>A NP_000415.2:p.Gly476Ser
NM_000424.4:c.1426G>A MANE Select NP_000415.2:p.Gly476Ser
Search 100 bp 5'
Search 100 bp 3'