Canonical Allele Identifier: CA6580159
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs200334341
ExAC: 12:52827666 G / A
gnomAD v2: 12-52827666-G-A
gnomAD v3: 12-52433882-G-A
gnomAD v4: 12-52433882-G-A
MyVariant Identifiers: chr12:g.52827666G>A (hg19) chr12:g.52433882G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433882G>A , CM000674.2:g.52433882G>A GRCh38
NC_000012.11:g.52827666G>A , CM000674.1:g.52827666G>A GRCh37
NC_000012.10:g.51113933G>A NCBI36
NG_008403.1:g.5445C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.423C>T MANE Select ENSP00000252245.5:p.Thr141=
ENST00000252245.5:c.423C>T ENSP00000252245.5:p.Thr141=
NM_004693.2:c.423C>T NP_004684.2:p.Thr141=
NM_004693.3:c.423C>T MANE Select NP_004684.2:p.Thr141=
Search 100 bp 5'
Search 100 bp 3'