Canonical Allele Identifier: CA2795998149
Gene: KRT75 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433755C>G , CM000674.2:g.52433755C>G GRCh38
NC_000012.11:g.52827539C>G , CM000674.1:g.52827539C>G GRCh37
NC_000012.10:g.51113806C>G NCBI36
NG_008403.1:g.5572G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.498+52G>C MANE Select ENSP00000252245.5:n.498+52G>C
ENST00000252245.5:c.498+52G>C ENSP00000252245.5:n.498+52G>C
NM_004693.2:c.498+52G>C NP_004684.2:n.498+52G>C
NM_004693.3:c.498+52G>C MANE Select NP_004684.2:n.498+52G>C
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