Canonical Allele Identifier: CA947694176
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs1940179441
gnomAD v3: 12-52433794-A-C
gnomAD v4: 12-52433794-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433794A>C , CM000674.2:g.52433794A>C GRCh38
NC_000012.11:g.52827578A>C , CM000674.1:g.52827578A>C GRCh37
NC_000012.10:g.51113845A>C NCBI36
NG_008403.1:g.5533T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.498+13T>G MANE Select ENSP00000252245.5:n.498+13T>G
ENST00000252245.5:c.498+13T>G ENSP00000252245.5:n.498+13T>G
NM_004693.2:c.498+13T>G NP_004684.2:n.498+13T>G
NM_004693.3:c.498+13T>G MANE Select NP_004684.2:n.498+13T>G
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