Canonical Allele Identifier: CA767383018
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs981818559
gnomAD v4: 2-27323169-C-T
MyVariant Identifiers: chr2:g.27546036C>T (hg19) chr2:g.27323169C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323169C>T , CM000664.2:g.27323169C>T GRCh38
NC_000002.11:g.27546036C>T , CM000664.1:g.27546036C>T GRCh37
NC_000002.10:g.27399540C>T NCBI36
NG_008075.1:g.4396G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1264G>A ENSP00000349713.6:n.18+1264G>A
XM_005264327.2:c.-247G>A XP_005264384.1:n.-247G>A
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