Canonical Allele Identifier: CA2658328673
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323210-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323210C>T , CM000664.2:g.27323210C>T GRCh38
NC_000002.11:g.27546077C>T , CM000664.1:g.27546077C>T GRCh37
NC_000002.10:g.27399581C>T NCBI36
NG_008075.1:g.4355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1223G>A ENSP00000349713.6:n.18+1223G>A
XM_005264327.2:c.-288G>A XP_005264384.1:n.-288G>A