Canonical Allele Identifier: CA5170840

Gene: TMEM38B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105721567A>G , CM000671.2:g.105721567A>G	GRCh38
NC_000009.11:g.108483848A>G , CM000671.1:g.108483848A>G	GRCh37
NC_000009.10:g.107523669A>G	NCBI36
NG_032971.1:g.32043A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018112.3:c.300A>G MANE Select	NP_060582.1:p.Leu100=
ENST00000374692.8:c.300A>G MANE Select	ENSP00000363824.3:p.Leu100=
NM_018112.2:c.300A>G	NP_060582.1:p.Leu100=
ENST00000374688.5:c.138A>G	ENSP00000363820.1:p.Leu46=
ENST00000374692.7:c.300A>G	ENSP00000363824.3:p.Leu100=
ENST00000435034.5:c.110A>G
XM_005252075.2:c.138A>G	XP_005252132.1:p.Leu46=
XM_005252076.1:c.300A>G	XP_005252133.1:p.Leu100=
XM_005252076.3:c.300A>G	XP_005252133.1:p.Leu100=
XM_005252077.2:c.300A>G	XP_005252134.1:p.Leu100=
XM_005252077.3:c.300A>G	XP_005252134.1:p.Leu100=
XM_005252078.2:c.300A>G	XP_005252135.1:p.Leu100=
XM_011518829.1:c.300A>G	XP_011517131.1:p.Leu100=
XM_011518830.1:c.300A>G	XP_011517132.1:p.Leu100=
XM_011518831.1:c.300A>G	XP_011517133.1:p.Leu100=
XM_011518831.2:c.300A>G	XP_011517133.1:p.Leu100=
XM_011518832.1:c.269+15814A>G	XP_011517134.1:n.269+15814A>G
XM_011518832.3:c.269+15814A>G	XP_011517134.1:n.269+15814A>G
XM_011518833.1:c.-49A>G	XP_011517135.1:n.-49A>G
XM_011518833.3:c.-49A>G	XP_011517135.1:n.-49A>G
XR_001746343.1:n.417A>G