Canonical Allele Identifier: CA325562519
Gene: TYMP HGNC NCBI

Linked Data

dbSNP Id: rs997843753
MyVariant Identifiers: chr22:g.50527550C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50527550C>G , CM000684.2:g.50527550C>G GRCh38
NC_000022.10:g.50965979C>G , CM000684.1:g.50965979C>G GRCh37
NC_000022.9:g.49312845C>G NCBI36
NG_011860.1:g.7536G>C , LRG_727:g.7536G>C
NG_016235.1:g.3890G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.646+38G>C MANE Select ENSP00000252029.3:n.646+38G>C
ENST00000395680.6:c.646+38G>C ENSP00000379037.1:n.646+38G>C
ENST00000395681.6:c.646+38G>C ENSP00000379038.1:n.646+38G>C
ENST00000650719.1:c.646+38G>C ENSP00000498276.1:n.646+38G>C
ENST00000651401.1:c.130+38G>C ENSP00000499115.1:n.130+38G>C
ENST00000651906.1:n.803G>C
ENST00000652352.1:c.357+38G>C ENSP00000498579.1:n.357+38G>C
ENST00000652401.1:c.102+38G>C
ENST00000252029.7:c.646+38G>C ENSP00000252029.3:n.646+38G>C
ENST00000395678.7:c.646+38G>C ENSP00000379036.3:n.646+38G>C
ENST00000395680.5:c.646+38G>C ENSP00000379037.1:n.646+38G>C
ENST00000395681.5:c.646+38G>C ENSP00000379038.1:n.646+38G>C
ENST00000425169.1:c.547+38G>C ENSP00000395875.1:n.547+38G>C
ENST00000476284.1:n.771+38G>C
ENST00000487577.5:n.933+38G>C
NM_001113755.2:c.646+38G>C NP_001107227.1:n.646+38G>C
NM_001113756.2:c.646+38G>C NP_001107228.1:n.646+38G>C
NM_001257988.1:c.646+38G>C , LRG_727t1:c.646+38G>C NP_001244917.1:n.646+38G>C
NM_001257989.1:c.646+38G>C , LRG_727t2:c.646+38G>C NP_001244918.1:n.646+38G>C
NM_001953.4:c.646+38G>C NP_001944.1:n.646+38G>C
NM_001113755.3:c.646+38G>C NP_001107227.1:n.646+38G>C
NM_001113756.3:c.646+38G>C NP_001107228.1:n.646+38G>C
NM_001953.5:c.646+38G>C MANE Select NP_001944.1:n.646+38G>C