Canonical Allele Identifier: CA2658328613
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323137-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323137G>T , CM000664.2:g.27323137G>T GRCh38
NC_000002.11:g.27546004G>T , CM000664.1:g.27546004G>T GRCh37
NC_000002.10:g.27399508G>T NCBI36
NG_008075.1:g.4428C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1296C>A ENSP00000349713.6:n.18+1296C>A
XM_005264327.2:c.-215C>A XP_005264384.1:n.-215C>A
Search 100 bp 5'
Search 100 bp 3'