Canonical Allele Identifier: CA352453809
Gene: SLC6A20 HGNC NCBI

Linked Data

gnomAD v4: 3-45772513-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45772513T>A , CM000665.2:g.45772513T>A GRCh38
NC_000003.11:g.45814005T>A , CM000665.1:g.45814005T>A GRCh37
NC_000003.10:g.45789009T>A NCBI36
NG_023204.1:g.29031A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703343.1:c.685A>T ENSP00000515266.1:p.Thr229Ser
ENST00000358525.9:c.685A>T MANE Select ENSP00000346298.4:p.Thr229Ser
ENST00000353278.8:c.583-1055A>T ENSP00000296133.5:n.583-1055A>T
ENST00000358525.8:c.685A>T ENSP00000346298.4:p.Thr229Ser
ENST00000413781.1:c.544A>T ENSP00000395506.1:p.Thr182Ser
ENST00000456124.6:c.685A>T ENSP00000404310.2:p.Thr229Ser
NM_020208.3:c.685A>T NP_064593.1:p.Thr229Ser
NM_022405.3:c.583-1055A>T NP_071800.1:n.583-1055A>T
XM_005265236.2:c.685A>T XP_005265293.1:p.Thr229Ser
XM_011533847.1:c.388A>T XP_011532149.1:p.Thr130Ser
XM_011533848.1:c.685A>T XP_011532150.1:p.Thr229Ser
XM_011533847.2:c.388A>T XP_011532149.1:p.Thr130Ser
XM_011533848.2:c.685A>T XP_011532150.1:p.Thr229Ser
NM_020208.4:c.685A>T MANE Select NP_064593.1:p.Thr229Ser
NM_022405.4:c.583-1055A>T NP_071800.1:n.583-1055A>T
NM_001385683.1:c.685A>T NP_001372612.1:p.Thr229Ser