Canonical Allele Identifier: CA2410907738

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526243C= , CM000684.2:g.50526243C= GRCh38
NC_000022.10:g.50964672C= , CM000684.1:g.50964672C= GRCh37
NC_000022.9:g.49311538C= NCBI36
NG_011860.1:g.8843G= , LRG_727:g.8843G=
NG_016235.1:g.5197G=
NG_021419.1:g.23028C=

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.1159+3G= (TYMP) MANE Select ENSP00000252029.3:n.1159+3G=
ENST00000395680.6:c.1159+3G= (TYMP) ENSP00000379037.1:n.1159+3G=
ENST00000395681.6:c.1159+3G= (TYMP) ENSP00000379038.1:n.1159+3G=
ENST00000543927.6:c.-14+3G= (SCO2) ENSP00000444433.1:n.-14+3G=
ENST00000651490.1:c.92+3G= (TYMP)
ENST00000652401.1:c.660+3G= (TYMP)
ENST00000252029.7:c.1159+3G= (TYMP) ENSP00000252029.3:n.1159+3G=
ENST00000395678.7:c.1159+3G= (TYMP) ENSP00000379036.3:n.1159+3G=
ENST00000395680.5:c.1159+3G= (TYMP) ENSP00000379037.1:n.1159+3G=
ENST00000395681.5:c.1159+3G= (TYMP) ENSP00000379038.1:n.1159+3G=
ENST00000423348.1:c.-14+3G= ENSP00000403570.1:n.-14+3G=
ENST00000425169.1:c.1060+3G= (TYMP) ENSP00000395875.1:n.1060+3G=
ENST00000476284.1:n.1168G= (TYMP)
ENST00000487577.5:n.1446+3G= (TYMP)
ENST00000543927.5:c.-14+3G= ENSP00000444433.1:n.-14+3G=
NM_001113755.2:c.1159+3G= (TYMP) NP_001107227.1:n.1159+3G=
NM_001113756.2:c.1159+3G= (TYMP) NP_001107228.1:n.1159+3G=
NM_001169109.1:c.-14+3G= (SCO2) NP_001162580.1:n.-14+3G=
NM_001257988.1:c.1159+3G= , LRG_727t1:c.1159+3G= (TYMP) NP_001244917.1:n.1159+3G=
NM_001257989.1:c.1159+3G= , LRG_727t2:c.1159+3G= (TYMP) NP_001244918.1:n.1159+3G=
NM_001953.4:c.1159+3G= (TYMP) NP_001944.1:n.1159+3G=
NM_001113755.3:c.1159+3G= (TYMP) NP_001107227.1:n.1159+3G=
NM_001113756.3:c.1159+3G= (TYMP) NP_001107228.1:n.1159+3G=
NM_001953.5:c.1159+3G= (TYMP) MANE Select NP_001944.1:n.1159+3G=
NM_001169109.2:c.-14+3G= (SCO2) NP_001162580.1:n.-14+3G=