Canonical Allele Identifier: CA1240221897

Gene: MPV17

Linked Data

• dbSNP Id: rs1679924892
• gnomAD v4: 2-27323222-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323222G>C , CM000664.2:g.27323222G>C	GRCh38
NC_000002.11:g.27546089G>C , CM000664.1:g.27546089G>C	GRCh37
NC_000002.10:g.27399593G>C	NCBI36
NG_008075.1:g.4343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1211C>G	ENSP00000349713.6:n.18+1211C>G
XM_005264327.2:c.-300C>G	XP_005264384.1:n.-300C>G