Canonical Allele Identifier: CA5171001

Gene: TMEM38B

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105773952C>T , CM000671.2:g.105773952C>T	GRCh38
NC_000009.11:g.108536233C>T , CM000671.1:g.108536233C>T	GRCh37
NC_000009.10:g.107576054C>T	NCBI36
NG_032971.1:g.84428C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018112.3:c.748C>T MANE Select	NP_060582.1:p.Pro250Ser
ENST00000374692.8:c.748C>T MANE Select	ENSP00000363824.3:p.Pro250Ser
NM_018112.2:c.748C>T	NP_060582.1:p.Pro250Ser
ENST00000374688.5:c.586C>T	ENSP00000363820.1:p.Pro196Ser
ENST00000374692.7:c.748C>T	ENSP00000363824.3:p.Pro250Ser
ENST00000435034.5:c.594C>T
XM_005252075.2:c.586C>T	XP_005252132.1:p.Pro196Ser
XM_005252076.1:c.*106C>T	XP_005252133.1:n.*106C>T
XM_005252076.3:c.*106C>T	XP_005252133.1:n.*106C>T
XM_005252077.3:c.*124C>T	XP_005252134.1:n.*124C>T
XM_011518829.1:c.*128C>T	XP_011517131.1:n.*128C>T
XM_011518832.1:c.475C>T	XP_011517134.1:p.Pro159Ser
XM_011518832.3:c.475C>T	XP_011517134.1:p.Pro159Ser
XM_011518833.1:c.400C>T	XP_011517135.1:p.Pro134Ser
XM_011518833.3:c.400C>T	XP_011517135.1:p.Pro134Ser