Canonical Allele Identifier: CA515387703

Gene: TYMP

Linked Data

• gnomAD v4: 22-50526586-G-A
• MyVariant Identifiers: chr22:g.50965015G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526586G>A , CM000684.2:g.50526586G>A	GRCh38
NC_000022.10:g.50965015G>A , CM000684.1:g.50965015G>A	GRCh37
NC_000022.9:g.49311881G>A	NCBI36
NG_011860.1:g.8500C>T , LRG_727:g.8500C>T
NG_016235.1:g.4854C>T
NG_021419.1:g.23371G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.918C>T MANE Select	ENSP00000252029.3:p.Val306=
ENST00000395680.6:c.918C>T	ENSP00000379037.1:p.Val306=
ENST00000395681.6:c.918C>T	ENSP00000379038.1:p.Val306=
ENST00000650719.1:c.799C>T	ENSP00000498276.1:p.His267Tyr
ENST00000651401.1:c.402C>T	ENSP00000499115.1:p.Val134=
ENST00000652401.1:c.419C>T
ENST00000252029.7:c.918C>T	ENSP00000252029.3:p.Val306=
ENST00000395678.7:c.918C>T	ENSP00000379036.3:p.Val306=
ENST00000395680.5:c.918C>T	ENSP00000379037.1:p.Val306=
ENST00000395681.5:c.918C>T	ENSP00000379038.1:p.Val306=
ENST00000425169.1:c.819C>T	ENSP00000395875.1:p.Val273=
ENST00000476284.1:n.924C>T
ENST00000487577.5:n.1205C>T
NM_001113755.2:c.918C>T	NP_001107227.1:p.Val306=
NM_001113756.2:c.918C>T	NP_001107228.1:p.Val306=
NM_001257988.1:c.918C>T , LRG_727t1:c.918C>T	NP_001244917.1:p.Val306=
NM_001257989.1:c.918C>T , LRG_727t2:c.918C>T	NP_001244918.1:p.Val306=
NM_001953.4:c.918C>T	NP_001944.1:p.Val306=
NM_001113755.3:c.918C>T	NP_001107227.1:p.Val306=
NM_001113756.3:c.918C>T	NP_001107228.1:p.Val306=
NM_001953.5:c.918C>T MANE Select	NP_001944.1:p.Val306=