Canonical Allele Identifier: CA1240221834
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1679919270
gnomAD v4: 2-27323150-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323150G>A , CM000664.2:g.27323150G>A GRCh38
NC_000002.11:g.27546017G>A , CM000664.1:g.27546017G>A GRCh37
NC_000002.10:g.27399521G>A NCBI36
NG_008075.1:g.4415C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1283C>T ENSP00000349713.6:n.18+1283C>T
XM_005264327.2:c.-228C>T XP_005264384.1:n.-228C>T
Search 100 bp 5'
Search 100 bp 3'