Canonical Allele Identifier: CA2658328578
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323103-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323103C>A , CM000664.2:g.27323103C>A GRCh38
NC_000002.11:g.27545970C>A , CM000664.1:g.27545970C>A GRCh37
NC_000002.10:g.27399474C>A NCBI36
NG_008075.1:g.4462G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1330G>T ENSP00000349713.6:n.18+1330G>T
XM_005264327.2:c.-181G>T XP_005264384.1:n.-181G>T