Canonical Allele Identifier: CA2658328677
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323218-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323218G>A , CM000664.2:g.27323218G>A GRCh38
NC_000002.11:g.27546085G>A , CM000664.1:g.27546085G>A GRCh37
NC_000002.10:g.27399589G>A NCBI36
NG_008075.1:g.4347C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1215C>T ENSP00000349713.6:n.18+1215C>T
XM_005264327.2:c.-296C>T XP_005264384.1:n.-296C>T
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