Canonical Allele Identifier: CA412199113

Gene: TYMP

Linked Data

• dbSNP Id: rs745699088
• gnomAD v2: 22-50965088-C-G
• gnomAD v3: 22-50526659-C-G
• gnomAD v4: 22-50526659-C-G
• MyVariant Identifiers: chr22:g.50965088C>G (hg19) ; chr22:g.50526659C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526659C>G , CM000684.2:g.50526659C>G	GRCh38
NC_000022.10:g.50965088C>G , CM000684.1:g.50965088C>G	GRCh37
NC_000022.9:g.49311954C>G	NCBI36
NG_011860.1:g.8427G>C , LRG_727:g.8427G>C
NG_016235.1:g.4781G>C
NG_021419.1:g.23444C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.845G>C MANE Select	ENSP00000252029.3:p.Gly282Ala
ENST00000395680.6:c.845G>C	ENSP00000379037.1:p.Gly282Ala
ENST00000395681.6:c.845G>C	ENSP00000379038.1:p.Gly282Ala
ENST00000650719.1:c.726G>C	ENSP00000498276.1:p.Gly242=
ENST00000651401.1:c.329G>C	ENSP00000499115.1:p.Gly110Ala
ENST00000652401.1:c.346G>C
ENST00000252029.7:c.845G>C	ENSP00000252029.3:p.Gly282Ala
ENST00000395678.7:c.845G>C	ENSP00000379036.3:p.Gly282Ala
ENST00000395680.5:c.845G>C	ENSP00000379037.1:p.Gly282Ala
ENST00000395681.5:c.845G>C	ENSP00000379038.1:p.Gly282Ala
ENST00000425169.1:c.746G>C	ENSP00000395875.1:p.Gly249Ala
ENST00000476284.1:n.851G>C
ENST00000487577.5:n.1132G>C
NM_001113755.2:c.845G>C	NP_001107227.1:p.Gly282Ala
NM_001113756.2:c.845G>C	NP_001107228.1:p.Gly282Ala
NM_001257988.1:c.845G>C , LRG_727t1:c.845G>C	NP_001244917.1:p.Gly282Ala
NM_001257989.1:c.845G>C , LRG_727t2:c.845G>C	NP_001244918.1:p.Gly282Ala
NM_001953.4:c.845G>C	NP_001944.1:p.Gly282Ala
NM_001113755.3:c.845G>C	NP_001107227.1:p.Gly282Ala
NM_001113756.3:c.845G>C	NP_001107228.1:p.Gly282Ala
NM_001953.5:c.845G>C MANE Select	NP_001944.1:p.Gly282Ala