Canonical Allele Identifier: CA1240221816
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs577578752

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323134T>C , CM000664.2:g.27323134T>C GRCh38
NC_000002.11:g.27546001T>C , CM000664.1:g.27546001T>C GRCh37
NC_000002.10:g.27399505T>C NCBI36
NG_008075.1:g.4431A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1299A>G ENSP00000349713.6:n.18+1299A>G
XM_005264327.2:c.-212A>G XP_005264384.1:n.-212A>G