Canonical Allele Identifier: CA480068279
Gene: KRT75 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52827705C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433921C>T , CM000674.2:g.52433921C>T GRCh38
NC_000012.11:g.52827705C>T , CM000674.1:g.52827705C>T GRCh37
NC_000012.10:g.51113972C>T NCBI36
NG_008403.1:g.5406G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.384G>A MANE Select ENSP00000252245.5:p.Gln128=
ENST00000252245.5:c.384G>A ENSP00000252245.5:p.Gln128=
NM_004693.2:c.384G>A NP_004684.2:p.Gln128=
NM_004693.3:c.384G>A MANE Select NP_004684.2:p.Gln128=