Canonical Allele Identifier: CA2658328700
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323246-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323246T>C , CM000664.2:g.27323246T>C GRCh38
NC_000002.11:g.27546113T>C , CM000664.1:g.27546113T>C GRCh37
NC_000002.10:g.27399617T>C NCBI36
NG_008075.1:g.4319A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1187A>G ENSP00000349713.6:n.18+1187A>G
XM_005264327.2:c.-324A>G XP_005264384.1:n.-324A>G