Canonical Allele Identifier: CA397401561
Community Standard Title: NM_031220.4(PITPNM3):c.2506A>G (p.Ser836Gly)
Gene: PITPNM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6457707T>C , CM000679.2:g.6457707T>C GRCh38
NC_000017.10:g.6361027T>C , CM000679.1:g.6361027T>C GRCh37
NC_000017.9:g.6301751T>C NCBI36
NG_016020.1:g.103851A>G

Transcript Alleles

HGVS Amino-acid Change
NM_031220.4:c.2506A>G MANE Select NP_112497.2:p.Ser836Gly
ENST00000262483.13:c.2506A>G MANE Select ENSP00000262483.8:p.Ser836Gly
NM_001165966.1:c.2398A>G NP_001159438.1:p.Ser800Gly
NM_001165966.2:c.2398A>G NP_001159438.1:p.Ser800Gly
NM_031220.3:c.2506A>G NP_112497.2:p.Ser836Gly
ENST00000262483.12:c.2506A>G ENSP00000262483.8:p.Ser836Gly
ENST00000421306.7:c.2398A>G ENSP00000407882.3:p.Ser800Gly
ENST00000572795.1:n.5012A>G
ENST00000576664.5:n.1255A>G
XM_011524014.1:c.2506A>G XP_011522316.1:p.Ser836Gly