Canonical Allele Identifier: CA8328980
Gene: PITPNM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 324741
ClinVar RCV Id: RCV000380413
dbSNP Id: rs189434615
ExAC: 17:6358624 C / A
gnomAD v2: 17-6358624-C-A
gnomAD v3: 17-6455304-C-A
gnomAD v4: 17-6455304-C-A
MyVariant Identifiers: chr17:g.6358624C>A (hg19) chr17:g.6455304C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6455304C>A , CM000679.2:g.6455304C>A GRCh38
NC_000017.10:g.6358624C>A , CM000679.1:g.6358624C>A GRCh37
NC_000017.9:g.6299348C>A NCBI36
NG_016020.1:g.106254G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262483.13:c.*34G>T MANE Select ENSP00000262483.8:n.*34G>T
ENST00000262483.12:c.*34G>T ENSP00000262483.8:n.*34G>T
ENST00000421306.7:c.*34G>T ENSP00000407882.3:n.*34G>T
NM_001165966.1:c.*34G>T NP_001159438.1:n.*34G>T
NM_031220.3:c.*34G>T NP_112497.2:n.*34G>T
XM_011524014.1:c.2619+2290G>T XP_011522316.1:n.2619+2290G>T
NM_031220.4:c.*34G>T MANE Select NP_112497.2:n.*34G>T
NM_001165966.2:c.*34G>T NP_001159438.1:n.*34G>T
Search 100 bp 5'
Search 100 bp 3'