Canonical Allele Identifier: CA1028675017
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1679924586
gnomAD v3: 2-27323219-T-A
gnomAD v4: 2-27323219-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323219T>A , CM000664.2:g.27323219T>A GRCh38
NC_000002.11:g.27546086T>A , CM000664.1:g.27546086T>A GRCh37
NC_000002.10:g.27399590T>A NCBI36
NG_008075.1:g.4346A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1214A>T ENSP00000349713.6:n.18+1214A>T
XM_005264327.2:c.-297A>T XP_005264384.1:n.-297A>T
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