Canonical Allele Identifier: CA2618923482
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs2121513248
gnomAD v4: 12-52433744-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433744G>T , CM000674.2:g.52433744G>T GRCh38
NC_000012.11:g.52827528G>T , CM000674.1:g.52827528G>T GRCh37
NC_000012.10:g.51113795G>T NCBI36
NG_008403.1:g.5583C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.498+63C>A MANE Select ENSP00000252245.5:n.498+63C>A
ENST00000252245.5:c.498+63C>A ENSP00000252245.5:n.498+63C>A
NM_004693.2:c.498+63C>A NP_004684.2:n.498+63C>A
NM_004693.3:c.498+63C>A MANE Select NP_004684.2:n.498+63C>A
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