Canonical Allele Identifier: CA412202802

Gene: TYMP

Linked Data

• gnomAD v4: 22-50529601-G-A
• MyVariant Identifiers: chr22:g.50968030G>A (hg19) ; chr22:g.50529601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529601G>A , CM000684.2:g.50529601G>A	GRCh38
NC_000022.10:g.50968030G>A , CM000684.1:g.50968030G>A	GRCh37
NC_000022.9:g.49314896G>A	NCBI36
NG_011860.1:g.5485C>T , LRG_727:g.5485C>T
NG_016235.1:g.1839C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.109C>T MANE Select	ENSP00000252029.3:p.Pro37Ser
ENST00000395680.6:c.109C>T	ENSP00000379037.1:p.Pro37Ser
ENST00000395681.6:c.109C>T	ENSP00000379038.1:p.Pro37Ser
ENST00000650719.1:c.109C>T	ENSP00000498276.1:p.Pro37Ser
ENST00000651095.1:n.248C>T
ENST00000651196.1:c.109C>T	ENSP00000499096.1:p.Pro37Ser
ENST00000651401.1:c.-1+303C>T	ENSP00000499115.1:n.-1+303C>T
ENST00000651906.1:n.228C>T
ENST00000652237.1:n.228C>T
ENST00000252029.7:c.109C>T	ENSP00000252029.3:p.Pro37Ser
ENST00000395678.7:c.109C>T	ENSP00000379036.3:p.Pro37Ser
ENST00000395680.5:c.109C>T	ENSP00000379037.1:p.Pro37Ser
ENST00000395681.5:c.109C>T	ENSP00000379038.1:p.Pro37Ser
ENST00000425169.1:c.109C>T	ENSP00000395875.1:p.Pro37Ser
ENST00000476284.1:n.234C>T
ENST00000487162.1:n.240C>T
ENST00000487577.5:n.396C>T
NM_001113755.2:c.109C>T	NP_001107227.1:p.Pro37Ser
NM_001113756.2:c.109C>T	NP_001107228.1:p.Pro37Ser
NM_001257988.1:c.109C>T , LRG_727t1:c.109C>T	NP_001244917.1:p.Pro37Ser
NM_001257989.1:c.109C>T , LRG_727t2:c.109C>T	NP_001244918.1:p.Pro37Ser
NM_001953.4:c.109C>T	NP_001944.1:p.Pro37Ser
NM_001113755.3:c.109C>T	NP_001107227.1:p.Pro37Ser
NM_001113756.3:c.109C>T	NP_001107228.1:p.Pro37Ser
NM_001953.5:c.109C>T MANE Select	NP_001944.1:p.Pro37Ser