Canonical Allele Identifier: CA1028675025

Gene: MPV17

Linked Data

• dbSNP Id: rs1679925612
• gnomAD v3: 2-27323236-A-T
• gnomAD v4: 2-27323236-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323236A>T , CM000664.2:g.27323236A>T	GRCh38
NC_000002.11:g.27546103A>T , CM000664.1:g.27546103A>T	GRCh37
NC_000002.10:g.27399607A>T	NCBI36
NG_008075.1:g.4329T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1197T>A	ENSP00000349713.6:n.18+1197T>A
XM_005264327.2:c.-314T>A	XP_005264384.1:n.-314T>A