Canonical Allele Identifier: CA44473166
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1032493736
gnomAD v4: 2-27323126-A-G
MyVariant Identifiers: chr2:g.27545993A>G (hg19) chr2:g.27323126A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323126A>G , CM000664.2:g.27323126A>G GRCh38
NC_000002.11:g.27545993A>G , CM000664.1:g.27545993A>G GRCh37
NC_000002.10:g.27399497A>G NCBI36
NG_008075.1:g.4439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1307T>C ENSP00000349713.6:n.18+1307T>C
XM_005264327.2:c.-204T>C XP_005264384.1:n.-204T>C
Search 100 bp 5'
Search 100 bp 3'