Canonical Allele Identifier: CA384973391
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs1334091486
gnomAD v3: 12-52433815-T-G
gnomAD v4: 12-52433815-T-G
MyVariant Identifiers: chr12:g.52827599T>G (hg19) chr12:g.52433815T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433815T>G , CM000674.2:g.52433815T>G GRCh38
NC_000012.11:g.52827599T>G , CM000674.1:g.52827599T>G GRCh37
NC_000012.10:g.51113866T>G NCBI36
NG_008403.1:g.5512A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.490A>C MANE Select ENSP00000252245.5:p.Ile164Leu
ENST00000252245.5:c.490A>C ENSP00000252245.5:p.Ile164Leu
NM_004693.2:c.490A>C NP_004684.2:p.Ile164Leu
NM_004693.3:c.490A>C MANE Select NP_004684.2:p.Ile164Leu
Search 100 bp 5'
Search 100 bp 3'