Canonical Allele Identifier: CA1028674962
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1679918016
gnomAD v3: 2-27323136-G-C
gnomAD v4: 2-27323136-G-C
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1297C>G ENSP00000349713.6:n.18+1297C>G
XM_005264327.2:c.-214C>G XP_005264384.1:n.-214C>G
Search 100 bp 5'
Search 100 bp 3'