Canonical Allele Identifier: CA767383084
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1444178468
gnomAD v3: 2-27323247-G-A
gnomAD v4: 2-27323247-G-A
MyVariant Identifiers: chr2:g.27546114G>A (hg19) chr2:g.27323247G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323247G>A , CM000664.2:g.27323247G>A GRCh38
NC_000002.11:g.27546114G>A , CM000664.1:g.27546114G>A GRCh37
NC_000002.10:g.27399618G>A NCBI36
NG_008075.1:g.4318C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1186C>T ENSP00000349713.6:n.18+1186C>T
XM_005264327.2:c.-325C>T XP_005264384.1:n.-325C>T
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