Canonical Allele Identifier: CA2658328654
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323194-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323194C>T , CM000664.2:g.27323194C>T GRCh38
NC_000002.11:g.27546061C>T , CM000664.1:g.27546061C>T GRCh37
NC_000002.10:g.27399565C>T NCBI36
NG_008075.1:g.4371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1239G>A ENSP00000349713.6:n.18+1239G>A
XM_005264327.2:c.-272G>A XP_005264384.1:n.-272G>A
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