Canonical Allele Identifier: CA2658328697
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323242-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323242A>G , CM000664.2:g.27323242A>G GRCh38
NC_000002.11:g.27546109A>G , CM000664.1:g.27546109A>G GRCh37
NC_000002.10:g.27399613A>G NCBI36
NG_008075.1:g.4323T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1191T>C ENSP00000349713.6:n.18+1191T>C
XM_005264327.2:c.-320T>C XP_005264384.1:n.-320T>C