Canonical Allele Identifier: CA10321420

Identifiers and link-outs to other resources

dbSNP Id: rs764275775

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50525859C>A , CM000684.2:g.50525859C>A GRCh38
NC_000022.10:g.50964288C>A , CM000684.1:g.50964288C>A GRCh37
NC_000022.9:g.49311154C>A NCBI36
NG_011860.1:g.9227G>T , LRG_727:g.9227G>T
NG_016235.1:g.5581G>T
NG_021419.1:g.22644C>A

Transcript Alleles

HGVS Amino-acid change
NM_001113755.2:c.1360G>T (TYMP) VV NP_001107227.1:p.Ala454Ser
NM_001113756.2:c.1360G>T (TYMP) VV NP_001107228.1:p.Ala454Ser
NM_001169109.1:c.-14+387G>T (SCO2) VV NP_001162580.1:p.=
NM_001169110.1:c.-14+142G>T (SCO2) VV NP_001162581.1:p.=
NM_001257988.1:c.1360G>T , LRG_727t1:c.1360G>T (TYMP) NP_001244917.1:p.Ala454Ser
NM_001257989.1:c.1375G>T , LRG_727t2:c.1375G>T (TYMP) NP_001244918.1:p.Ala459Ser
NM_001953.4:c.1360G>T (TYMP) VV NP_001944.1:p.Ala454Ser
ENST00000252029.7:c.1360G>T ENSP00000252029.3:p.Ala454Ser
ENST00000395678.7:c.1360G>T ENSP00000379036.3:p.Ala454Ser
ENST00000395680.5:c.1360G>T ENSP00000379037.1:p.Ala454Ser
ENST00000395681.5:c.1375G>T ENSP00000379038.1:p.Ala459Ser
ENST00000423348.1:c.-14+387G>T ENSP00000403570.1:p.=
ENST00000425169.1:c.1261G>T ENSP00000395875.1:p.Ala421Ser
ENST00000439934.5:c.-14+142G>T ENSP00000415642.1:p.=
ENST00000476284.1:n.1470G>T
ENST00000487577.5:n.1647G>T
ENST00000535425.5:c.-14+142G>T ENSP00000444242.1:p.=
ENST00000543927.5:c.-14+387G>T ENSP00000444433.1:p.=