Canonical Allele Identifier: CA412198435

Gene: TYMP

Linked Data

• ClinVar Variation Id: 632392
• ClinVar RCV Id: RCV000779376 ; RCV003768446
• dbSNP Id: rs1180285291
• gnomAD v3: 22-50526477-C-T
• gnomAD v4: 22-50526477-C-T
• MyVariant Identifiers: chr22:g.50964906C>T (hg19) ; chr22:g.50526477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526477C>T , CM000684.2:g.50526477C>T	GRCh38
NC_000022.10:g.50964906C>T , CM000684.1:g.50964906C>T	GRCh37
NC_000022.9:g.49311772C>T	NCBI36
NG_011860.1:g.8609G>A , LRG_727:g.8609G>A
NG_016235.1:g.4963G>A
NG_021419.1:g.23262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.929-1G>A MANE Select	ENSP00000252029.3:n.929-1G>A
ENST00000395680.6:c.929-1G>A	ENSP00000379037.1:n.929-1G>A
ENST00000395681.6:c.929-1G>A	ENSP00000379038.1:n.929-1G>A
ENST00000650719.1:c.810-1G>A	ENSP00000498276.1:n.810-1G>A
ENST00000651401.1:c.413-1G>A	ENSP00000499115.1:n.413-1G>A
ENST00000652401.1:c.430-1G>A
ENST00000252029.7:c.929-1G>A	ENSP00000252029.3:n.929-1G>A
ENST00000395678.7:c.929-1G>A	ENSP00000379036.3:n.929-1G>A
ENST00000395680.5:c.929-1G>A	ENSP00000379037.1:n.929-1G>A
ENST00000395681.5:c.929-1G>A	ENSP00000379038.1:n.929-1G>A
ENST00000425169.1:c.830-1G>A	ENSP00000395875.1:n.830-1G>A
ENST00000476284.1:n.935-1G>A
ENST00000487577.5:n.1216-1G>A
NM_001113755.2:c.929-1G>A	NP_001107227.1:n.929-1G>A
NM_001113756.2:c.929-1G>A	NP_001107228.1:n.929-1G>A
NM_001257988.1:c.929-1G>A , LRG_727t1:c.929-1G>A	NP_001244917.1:n.929-1G>A
NM_001257989.1:c.929-1G>A , LRG_727t2:c.929-1G>A	NP_001244918.1:n.929-1G>A
NM_001953.4:c.929-1G>A	NP_001944.1:n.929-1G>A
NM_001113755.3:c.929-1G>A	NP_001107227.1:n.929-1G>A
NM_001113756.3:c.929-1G>A	NP_001107228.1:n.929-1G>A
NM_001953.5:c.929-1G>A MANE Select	NP_001944.1:n.929-1G>A