Canonical Allele Identifier: CA605240275
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs888741002
gnomAD v2: 12-52827521-C-A
gnomAD v3: 12-52433737-C-A
gnomAD v4: 12-52433737-C-A
MyVariant Identifiers: chr12:g.52827521C>A (hg19) chr12:g.52433737C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433737C>A , CM000674.2:g.52433737C>A GRCh38
NC_000012.11:g.52827521C>A , CM000674.1:g.52827521C>A GRCh37
NC_000012.10:g.51113788C>A NCBI36
NG_008403.1:g.5590G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.498+70G>T MANE Select ENSP00000252245.5:n.498+70G>T
ENST00000252245.5:c.498+70G>T ENSP00000252245.5:n.498+70G>T
NM_004693.2:c.498+70G>T NP_004684.2:n.498+70G>T
NM_004693.3:c.498+70G>T MANE Select NP_004684.2:n.498+70G>T
Search 100 bp 5'
Search 100 bp 3'