Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525898G= , CM000684.2:g.50525898G=	GRCh38
NC_000022.10:g.50964327G= , CM000684.1:g.50964327G=	GRCh37
NC_000022.9:g.49311193G=	NCBI36
NG_011860.1:g.9188C= , LRG_727:g.9188C=
NG_016235.1:g.5542C=
NG_021419.1:g.22683G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1321C= (TYMP) MANE Select	ENSP00000252029.3:p.His441=
ENST00000395680.6:c.1321C= (TYMP)	ENSP00000379037.1:p.His441=
ENST00000395681.6:c.1336C= (TYMP)	ENSP00000379038.1:p.His446=
ENST00000543927.6:c.-14+348C= (SCO2)	ENSP00000444433.1:n.-14+348C=
ENST00000638598.2:c.-14+103C= (SCO2)	ENSP00000491753.2:n.-14+103C=
ENST00000651490.1:c.113C= (TYMP)
ENST00000652401.1:c.822C= (TYMP)
ENST00000252029.7:c.1321C= (TYMP)	ENSP00000252029.3:p.His441=
ENST00000395678.7:c.1321C= (TYMP)	ENSP00000379036.3:p.His441=
ENST00000395680.5:c.1321C= (TYMP)	ENSP00000379037.1:p.His441=
ENST00000395681.5:c.1336C= (TYMP)	ENSP00000379038.1:p.His446=
ENST00000423348.1:c.-14+348C=	ENSP00000403570.1:n.-14+348C=
ENST00000425169.1:c.1222C= (TYMP)	ENSP00000395875.1:p.His408=
ENST00000439934.5:c.-14+103C=	ENSP00000415642.1:n.-14+103C=
ENST00000476284.1:n.1431C= (TYMP)
ENST00000487577.5:n.1608C= (TYMP)
ENST00000535425.5:c.-14+103C=	ENSP00000444242.1:n.-14+103C=
ENST00000543927.5:c.-14+348C=	ENSP00000444433.1:n.-14+348C=
NM_001113755.2:c.1321C= (TYMP)	NP_001107227.1:p.His441=
NM_001113756.2:c.1321C= (TYMP)	NP_001107228.1:p.His441=
NM_001169109.1:c.-14+348C= (SCO2)	NP_001162580.1:n.-14+348C=
NM_001169110.1:c.-14+103C= (SCO2)	NP_001162581.1:n.-14+103C=
NM_001257988.1:c.1321C= , LRG_727t1:c.1321C= (TYMP)	NP_001244917.1:p.His441=
NM_001257989.1:c.1336C= , LRG_727t2:c.1336C= (TYMP)	NP_001244918.1:p.His446=
NM_001953.4:c.1321C= (TYMP)	NP_001944.1:p.His441=
NM_001113755.3:c.1321C= (TYMP)	NP_001107227.1:p.His441=
NM_001113756.3:c.1321C= (TYMP)	NP_001107228.1:p.His441=
NM_001953.5:c.1321C= (TYMP) MANE Select	NP_001944.1:p.His441=
NM_001169109.2:c.-14+348C= (SCO2)	NP_001162580.1:n.-14+348C=