Canonical Allele Identifier: CA5170849
Community Standard Title: NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val)
Gene: TMEM38B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105721608C>T , CM000671.2:g.105721608C>T GRCh38
NC_000009.11:g.108483889C>T , CM000671.1:g.108483889C>T GRCh37
NC_000009.10:g.107523710C>T NCBI36
NG_032971.1:g.32084C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018112.3:c.341C>T MANE Select NP_060582.1:p.Ala114Val
ENST00000374692.8:c.341C>T MANE Select ENSP00000363824.3:p.Ala114Val
NM_018112.2:c.341C>T NP_060582.1:p.Ala114Val
ENST00000374688.5:c.179C>T ENSP00000363820.1:p.Ala60Val
ENST00000374692.7:c.341C>T ENSP00000363824.3:p.Ala114Val
ENST00000435034.5:c.151C>T
XM_005252075.2:c.179C>T XP_005252132.1:p.Ala60Val
XM_005252076.1:c.341C>T XP_005252133.1:p.Ala114Val
XM_005252076.3:c.341C>T XP_005252133.1:p.Ala114Val
XM_005252077.2:c.341C>T XP_005252134.1:p.Ala114Val
XM_005252077.3:c.341C>T XP_005252134.1:p.Ala114Val
XM_005252078.2:c.341C>T XP_005252135.1:p.Ala114Val
XM_011518829.1:c.341C>T XP_011517131.1:p.Ala114Val
XM_011518830.1:c.341C>T XP_011517132.1:p.Ala114Val
XM_011518831.1:c.341C>T XP_011517133.1:p.Ala114Val
XM_011518831.2:c.341C>T XP_011517133.1:p.Ala114Val
XM_011518832.1:c.269+15855C>T XP_011517134.1:n.269+15855C>T
XM_011518832.3:c.269+15855C>T XP_011517134.1:n.269+15855C>T
XM_011518833.1:c.-8C>T XP_011517135.1:n.-8C>T
XM_011518833.3:c.-8C>T XP_011517135.1:n.-8C>T
XR_001746343.1:n.458C>T