Canonical Allele Identifier: CA480067669
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs1940181077
gnomAD v4: 12-52433891-G-A
COSMIC: COSM5533555
MyVariant Identifiers: chr12:g.52827675G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433891G>A , CM000674.2:g.52433891G>A GRCh38
NC_000012.11:g.52827675G>A , CM000674.1:g.52827675G>A GRCh37
NC_000012.10:g.51113942G>A NCBI36
NG_008403.1:g.5436C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.414C>T MANE Select ENSP00000252245.5:p.Ile138=
ENST00000252245.5:c.414C>T ENSP00000252245.5:p.Ile138=
NM_004693.2:c.414C>T NP_004684.2:p.Ile138=
NM_004693.3:c.414C>T MANE Select NP_004684.2:p.Ile138=
Search 100 bp 5'
Search 100 bp 3'