Canonical Allele Identifier: CA6580146
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs138137930
ExAC: 12:52827639 G / T
gnomAD v2: 12-52827639-G-T
gnomAD v3: 12-52433855-G-T
gnomAD v4: 12-52433855-G-T
MyVariant Identifiers: chr12:g.52827639G>T (hg19) chr12:g.52433855G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433855G>T , CM000674.2:g.52433855G>T GRCh38
NC_000012.11:g.52827639G>T , CM000674.1:g.52827639G>T GRCh37
NC_000012.10:g.51113906G>T NCBI36
NG_008403.1:g.5472C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.450C>A MANE Select ENSP00000252245.5:p.Arg150=
ENST00000252245.5:c.450C>A ENSP00000252245.5:p.Arg150=
NM_004693.2:c.450C>A NP_004684.2:p.Arg150=
NM_004693.3:c.450C>A MANE Select NP_004684.2:p.Arg150=
Search 100 bp 5'
Search 100 bp 3'