Canonical Allele Identifier: CA2618923490
Gene: KRT75 HGNC NCBI

Linked Data

gnomAD v4: 12-52433758-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433758G>A , CM000674.2:g.52433758G>A GRCh38
NC_000012.11:g.52827542G>A , CM000674.1:g.52827542G>A GRCh37
NC_000012.10:g.51113809G>A NCBI36
NG_008403.1:g.5569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.498+49C>T MANE Select ENSP00000252245.5:n.498+49C>T
ENST00000252245.5:c.498+49C>T ENSP00000252245.5:n.498+49C>T
NM_004693.2:c.498+49C>T NP_004684.2:n.498+49C>T
NM_004693.3:c.498+49C>T MANE Select NP_004684.2:n.498+49C>T
Search 100 bp 5'
Search 100 bp 3'