Canonical Allele Identifier: CA5170986
Community Standard Title: NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr)
Gene: TMEM38B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105773866T>C , CM000671.2:g.105773866T>C GRCh38
NC_000009.11:g.108536147T>C , CM000671.1:g.108536147T>C GRCh37
NC_000009.10:g.107575968T>C NCBI36
NG_032971.1:g.84342T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018112.3:c.662T>C MANE Select NP_060582.1:p.Ile221Thr
ENST00000374692.8:c.662T>C MANE Select ENSP00000363824.3:p.Ile221Thr
NM_018112.2:c.662T>C NP_060582.1:p.Ile221Thr
ENST00000374688.5:c.500T>C ENSP00000363820.1:p.Ile167Thr
ENST00000374692.7:c.662T>C ENSP00000363824.3:p.Ile221Thr
ENST00000435034.5:c.508T>C
XM_005252075.2:c.500T>C XP_005252132.1:p.Ile167Thr
XM_005252076.1:c.*20T>C XP_005252133.1:n.*20T>C
XM_005252076.3:c.*20T>C XP_005252133.1:n.*20T>C
XM_005252077.2:c.*38T>C XP_005252134.1:n.*38T>C
XM_005252077.3:c.*38T>C XP_005252134.1:n.*38T>C
XM_005252078.2:c.*1T>C XP_005252135.1:n.*1T>C
XM_011518829.1:c.*42T>C XP_011517131.1:n.*42T>C
XM_011518832.1:c.389T>C XP_011517134.1:p.Ile130Thr
XM_011518832.3:c.389T>C XP_011517134.1:p.Ile130Thr
XM_011518833.1:c.314T>C XP_011517135.1:p.Ile105Thr
XM_011518833.3:c.314T>C XP_011517135.1:p.Ile105Thr
XR_001746343.1:n.846T>C