Canonical Allele Identifier: CA480067614
Gene: KRT75 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52827648G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433864G>C , CM000674.2:g.52433864G>C GRCh38
NC_000012.11:g.52827648G>C , CM000674.1:g.52827648G>C GRCh37
NC_000012.10:g.51113915G>C NCBI36
NG_008403.1:g.5463C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.441C>G MANE Select ENSP00000252245.5:p.Ala147=
ENST00000252245.5:c.441C>G ENSP00000252245.5:p.Ala147=
NM_004693.2:c.441C>G NP_004684.2:p.Ala147=
NM_004693.3:c.441C>G MANE Select NP_004684.2:p.Ala147=