Canonical Allele Identifier: CA1028674970
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1427559229
gnomAD v3: 2-27323143-G-A
gnomAD v4: 2-27323143-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323143G>A , CM000664.2:g.27323143G>A GRCh38
NC_000002.11:g.27546010G>A , CM000664.1:g.27546010G>A GRCh37
NC_000002.10:g.27399514G>A NCBI36
NG_008075.1:g.4422C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1290C>T ENSP00000349713.6:n.18+1290C>T
XM_005264327.2:c.-221C>T XP_005264384.1:n.-221C>T
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