Canonical Allele Identifier: CA384929269
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1235137513
gnomAD v2: 12-52913650-G-C
gnomAD v4: 12-52519866-G-C
MyVariant Identifiers: chr12:g.52913650G>C (hg19) chr12:g.52519866G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519866G>C , CM000674.2:g.52519866G>C GRCh38
NC_000012.11:g.52913650G>C , CM000674.1:g.52913650G>C GRCh37
NC_000012.10:g.51199917G>C NCBI36
NG_008297.1:g.5594C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.431C>G MANE Select ENSP00000252242.4:p.Thr144Ser
ENST00000252242.8:c.431C>G ENSP00000252242.4:p.Thr144Ser
ENST00000549420.1:c.101C>G ENSP00000447209.1:p.Thr34Ser
ENST00000551275.1:c.326C>G ENSP00000448041.1:p.Thr109Ser
ENST00000552629.5:n.529C>G
NM_000424.3:c.431C>G NP_000415.2:p.Thr144Ser
NM_000424.4:c.431C>G MANE Select NP_000415.2:p.Thr144Ser
Search 100 bp 5'
Search 100 bp 3'