Canonical Allele Identifier: CA1240221916

Gene: MPV17

Linked Data

• dbSNP Id: rs1679926373
• gnomAD v4: 2-27323249-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323249C>T , CM000664.2:g.27323249C>T	GRCh38
NC_000002.11:g.27546116C>T , CM000664.1:g.27546116C>T	GRCh37
NC_000002.10:g.27399620C>T	NCBI36
NG_008075.1:g.4316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1184G>A	ENSP00000349713.6:n.18+1184G>A
XM_005264327.2:c.-327G>A	XP_005264384.1:n.-327G>A