Canonical Allele Identifier: CA480067648
Gene: KRT75 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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