Canonical Allele Identifier: CA480067649
Gene: KRT75 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52827663G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433879G>T , CM000674.2:g.52433879G>T GRCh38
NC_000012.11:g.52827663G>T , CM000674.1:g.52827663G>T GRCh37
NC_000012.10:g.51113930G>T NCBI36
NG_008403.1:g.5448C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.426C>A MANE Select ENSP00000252245.5:p.Ile142=
ENST00000252245.5:c.426C>A ENSP00000252245.5:p.Ile142=
NM_004693.2:c.426C>A NP_004684.2:p.Ile142=
NM_004693.3:c.426C>A MANE Select NP_004684.2:p.Ile142=