Canonical Allele Identifier: CA2658328573
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323100-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323100C>A , CM000664.2:g.27323100C>A GRCh38
NC_000002.11:g.27545967C>A , CM000664.1:g.27545967C>A GRCh37
NC_000002.10:g.27399471C>A NCBI36
NG_008075.1:g.4465G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1333G>T ENSP00000349713.6:n.18+1333G>T
ENST00000380044.5:c.-54G>T ENSP00000369383.1:n.-54G>T
ENST00000405076.5:c.-54G>T ENSP00000385175.1:n.-54G>T
ENST00000621183.4:n.3G>T
NM_002437.4:c.-54G>T NP_002428.1:n.-54G>T
XM_005264327.2:c.-178G>T XP_005264384.1:n.-178G>T
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