Canonical Allele Identifier: CA2658328678
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323220-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323220G>T , CM000664.2:g.27323220G>T GRCh38
NC_000002.11:g.27546087G>T , CM000664.1:g.27546087G>T GRCh37
NC_000002.10:g.27399591G>T NCBI36
NG_008075.1:g.4345C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1213C>A ENSP00000349713.6:n.18+1213C>A
XM_005264327.2:c.-298C>A XP_005264384.1:n.-298C>A