Canonical Allele Identifier: CA2658328698

Gene: MPV17

Linked Data

• gnomAD v4: 2-27323243-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323243C>T , CM000664.2:g.27323243C>T	GRCh38
NC_000002.11:g.27546110C>T , CM000664.1:g.27546110C>T	GRCh37
NC_000002.10:g.27399614C>T	NCBI36
NG_008075.1:g.4322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1190G>A	ENSP00000349713.6:n.18+1190G>A
XM_005264327.2:c.-321G>A	XP_005264384.1:n.-321G>A