Canonical Allele Identifier: CA237223679
Gene: KRT75 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.498+70G>C MANE Select ENSP00000252245.5:n.498+70G>C
ENST00000252245.5:c.498+70G>C ENSP00000252245.5:n.498+70G>C
NM_004693.2:c.498+70G>C NP_004684.2:n.498+70G>C
NM_004693.3:c.498+70G>C MANE Select NP_004684.2:n.498+70G>C
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