Canonical Allele Identifier: CA374380597
Community Standard Title: NM_018112.3(TMEM38B):c.507G>A (p.Trp169Ter)
Gene: TMEM38B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105722586G>A , CM000671.2:g.105722586G>A GRCh38
NC_000009.11:g.108484867G>A , CM000671.1:g.108484867G>A GRCh37
NC_000009.10:g.107524688G>A NCBI36
NG_032971.1:g.33062G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018112.3:c.507G>A MANE Select NP_060582.1:p.Trp169Ter
ENST00000374692.8:c.507G>A MANE Select ENSP00000363824.3:p.Trp169Ter
NM_018112.2:c.507G>A NP_060582.1:p.Trp169Ter
ENST00000374688.5:c.345G>A ENSP00000363820.1:p.Trp115Ter
ENST00000374692.7:c.507G>A ENSP00000363824.3:p.Trp169Ter
ENST00000435034.5:c.317G>A
ENST00000451560.1:c.88G>A
XM_005252075.2:c.345G>A XP_005252132.1:p.Trp115Ter
XM_005252076.1:c.507G>A XP_005252133.1:p.Trp169Ter
XM_005252076.3:c.507G>A XP_005252133.1:p.Trp169Ter
XM_005252077.2:c.507G>A XP_005252134.1:p.Trp169Ter
XM_005252077.3:c.507G>A XP_005252134.1:p.Trp169Ter
XM_005252078.2:c.507G>A XP_005252135.1:p.Trp169Ter
XM_011518829.1:c.507G>A XP_011517131.1:p.Trp169Ter
XM_011518830.1:c.507G>A XP_011517132.1:p.Trp169Ter
XM_011518831.1:c.507G>A XP_011517133.1:p.Trp169Ter
XM_011518831.2:c.507G>A XP_011517133.1:p.Trp169Ter
XM_011518832.1:c.269+16833G>A XP_011517134.1:n.269+16833G>A
XM_011518832.3:c.269+16833G>A XP_011517134.1:n.269+16833G>A
XM_011518833.1:c.159G>A XP_011517135.1:p.Trp53Ter
XM_011518833.3:c.159G>A XP_011517135.1:p.Trp53Ter
XR_001746343.1:n.624G>A