Canonical Allele Identifier: CA10321776

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2917224
• ClinVar RCV Id: RCV003737661
• dbSNP Id: rs949820982
• ExAC: 22:50967545 G / T
• gnomAD v2: 22-50967545-G-T
• gnomAD v3: 22-50529116-G-T
• gnomAD v4: 22-50529116-G-T
• MyVariant Identifiers: chr22:g.50967545G>T (hg19) ; chr22:g.50967545_50967546delinsTA (hg19) ; chr22:g.50529116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529116G>T , CM000684.2:g.50529116G>T	GRCh38
NC_000022.10:g.50967545G>T , CM000684.1:g.50967545G>T	GRCh37
NC_000022.9:g.49314411G>T	NCBI36
NG_011860.1:g.5970C>A , LRG_727:g.5970C>A
NG_016235.1:g.2324C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.417+20C>A MANE Select	ENSP00000252029.3:n.417+20C>A
ENST00000395680.6:c.417+20C>A	ENSP00000379037.1:n.417+20C>A
ENST00000395681.6:c.417+20C>A	ENSP00000379038.1:n.417+20C>A
ENST00000650719.1:c.417+20C>A	ENSP00000498276.1:n.417+20C>A
ENST00000651095.1:n.576C>A
ENST00000651401.1:c.-1+788C>A	ENSP00000499115.1:n.-1+788C>A
ENST00000651906.1:n.536+20C>A
ENST00000652237.1:n.713C>A
ENST00000652352.1:c.165+20C>A	ENSP00000498579.1:n.165+20C>A
ENST00000252029.7:c.417+20C>A	ENSP00000252029.3:n.417+20C>A
ENST00000395678.7:c.417+20C>A	ENSP00000379036.3:n.417+20C>A
ENST00000395680.5:c.417+20C>A	ENSP00000379037.1:n.417+20C>A
ENST00000395681.5:c.417+20C>A	ENSP00000379038.1:n.417+20C>A
ENST00000425169.1:c.417+20C>A	ENSP00000395875.1:n.417+20C>A
ENST00000476284.1:n.542+20C>A
ENST00000487162.1:n.725C>A
ENST00000487577.5:n.704+20C>A
NM_001113755.2:c.417+20C>A	NP_001107227.1:n.417+20C>A
NM_001113756.2:c.417+20C>A	NP_001107228.1:n.417+20C>A
NM_001257988.1:c.417+20C>A , LRG_727t1:c.417+20C>A	NP_001244917.1:n.417+20C>A
NM_001257989.1:c.417+20C>A , LRG_727t2:c.417+20C>A	NP_001244918.1:n.417+20C>A
NM_001953.4:c.417+20C>A	NP_001944.1:n.417+20C>A
NM_001113755.3:c.417+20C>A	NP_001107227.1:n.417+20C>A
NM_001113756.3:c.417+20C>A	NP_001107228.1:n.417+20C>A
NM_001953.5:c.417+20C>A MANE Select	NP_001944.1:n.417+20C>A