Canonical Allele Identifier: CA2658328612

Gene: MPV17

Linked Data

• dbSNP Id: rs1679918016
• gnomAD v4: 2-27323136-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323136G>T , CM000664.2:g.27323136G>T	GRCh38
NC_000002.11:g.27546003G>T , CM000664.1:g.27546003G>T	GRCh37
NC_000002.10:g.27399507G>T	NCBI36
NG_008075.1:g.4429C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1297C>A	ENSP00000349713.6:n.18+1297C>A
XM_005264327.2:c.-214C>A	XP_005264384.1:n.-214C>A