Canonical Allele Identifier: CA480068268
Gene: KRT75 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52827699G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433915G>C , CM000674.2:g.52433915G>C GRCh38
NC_000012.11:g.52827699G>C , CM000674.1:g.52827699G>C GRCh37
NC_000012.10:g.51113966G>C NCBI36
NG_008403.1:g.5412C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.390C>G MANE Select ENSP00000252245.5:p.Leu130=
ENST00000252245.5:c.390C>G ENSP00000252245.5:p.Leu130=
NM_004693.2:c.390C>G NP_004684.2:p.Leu130=
NM_004693.3:c.390C>G MANE Select NP_004684.2:p.Leu130=
Search 100 bp 5'
Search 100 bp 3'