Canonical Allele Identifier: CA640048248

Gene: TYMP

Linked Data

• dbSNP Id: rs1255364978
• gnomAD v2: 22-50965554-G-A
• gnomAD v4: 22-50527125-G-A
• MyVariant Identifiers: chr22:g.50965554G>A (hg19) ; chr22:g.50527125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50527125G>A , CM000684.2:g.50527125G>A	GRCh38
NC_000022.10:g.50965554G>A , CM000684.1:g.50965554G>A	GRCh37
NC_000022.9:g.49312420G>A	NCBI36
NG_011860.1:g.7961C>T , LRG_727:g.7961C>T
NG_016235.1:g.4315C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.765+40C>T MANE Select	ENSP00000252029.3:n.765+40C>T
ENST00000395680.6:c.765+40C>T	ENSP00000379037.1:n.765+40C>T
ENST00000395681.6:c.765+40C>T	ENSP00000379038.1:n.765+40C>T
ENST00000650719.1:c.647-387C>T	ENSP00000498276.1:n.647-387C>T
ENST00000651401.1:c.249+40C>T	ENSP00000499115.1:n.249+40C>T
ENST00000652352.1:c.476+40C>T	ENSP00000498579.1:n.476+40C>T
ENST00000652401.1:c.266+40C>T
ENST00000252029.7:c.765+40C>T	ENSP00000252029.3:n.765+40C>T
ENST00000395678.7:c.765+40C>T	ENSP00000379036.3:n.765+40C>T
ENST00000395680.5:c.765+40C>T	ENSP00000379037.1:n.765+40C>T
ENST00000395681.5:c.765+40C>T	ENSP00000379038.1:n.765+40C>T
ENST00000425169.1:c.666+40C>T	ENSP00000395875.1:n.666+40C>T
ENST00000476284.1:n.772-387C>T
ENST00000487577.5:n.1052+40C>T
NM_001113755.2:c.765+40C>T	NP_001107227.1:n.765+40C>T
NM_001113756.2:c.765+40C>T	NP_001107228.1:n.765+40C>T
NM_001257988.1:c.765+40C>T , LRG_727t1:c.765+40C>T	NP_001244917.1:n.765+40C>T
NM_001257989.1:c.765+40C>T , LRG_727t2:c.765+40C>T	NP_001244918.1:n.765+40C>T
NM_001953.4:c.765+40C>T	NP_001944.1:n.765+40C>T
NM_001113755.3:c.765+40C>T	NP_001107227.1:n.765+40C>T
NM_001113756.3:c.765+40C>T	NP_001107228.1:n.765+40C>T
NM_001953.5:c.765+40C>T MANE Select	NP_001944.1:n.765+40C>T