Canonical Allele Identifier: CA2658328575
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323101-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323101G>A , CM000664.2:g.27323101G>A GRCh38
NC_000002.11:g.27545968G>A , CM000664.1:g.27545968G>A GRCh37
NC_000002.10:g.27399472G>A NCBI36
NG_008075.1:g.4464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1332C>T ENSP00000349713.6:n.18+1332C>T
ENST00000380044.5:c.-55C>T ENSP00000369383.1:n.-55C>T
ENST00000405076.5:c.-55C>T ENSP00000385175.1:n.-55C>T
ENST00000621183.4:n.2C>T
NM_002437.4:c.-55C>T NP_002428.1:n.-55C>T
XM_005264327.2:c.-179C>T XP_005264384.1:n.-179C>T
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