Canonical Allele Identifier: CA2658328688
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323230-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323230T>A , CM000664.2:g.27323230T>A GRCh38
NC_000002.11:g.27546097T>A , CM000664.1:g.27546097T>A GRCh37
NC_000002.10:g.27399601T>A NCBI36
NG_008075.1:g.4335A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1203A>T ENSP00000349713.6:n.18+1203A>T
XM_005264327.2:c.-308A>T XP_005264384.1:n.-308A>T
Search 100 bp 5'
Search 100 bp 3'