Canonical Allele Identifier: CA2658328577
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323102-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323102C>A , CM000664.2:g.27323102C>A GRCh38
NC_000002.11:g.27545969C>A , CM000664.1:g.27545969C>A GRCh37
NC_000002.10:g.27399473C>A NCBI36
NG_008075.1:g.4463G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1331G>T ENSP00000349713.6:n.18+1331G>T
ENST00000380044.5:c.-56G>T ENSP00000369383.1:n.-56G>T
ENST00000405076.5:c.-56G>T ENSP00000385175.1:n.-56G>T
ENST00000621183.4:n.1G>T
NM_002437.4:c.-56G>T NP_002428.1:n.-56G>T
XM_005264327.2:c.-180G>T XP_005264384.1:n.-180G>T
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