Canonical Allele Identifier: CA2351530
Gene: SLC6A20 HGNC NCBI

Linked Data

dbSNP Id: rs754687696
gnomAD v2: 3-45814004-G-A
gnomAD v4: 3-45772512-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45772512G>A , CM000665.2:g.45772512G>A GRCh38
NC_000003.11:g.45814004G>A , CM000665.1:g.45814004G>A GRCh37
NC_000003.10:g.45789008G>A NCBI36
NG_023204.1:g.29032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703343.1:c.686C>T ENSP00000515266.1:p.Thr229Ile
ENST00000358525.9:c.686C>T MANE Select ENSP00000346298.4:p.Thr229Ile
ENST00000353278.8:c.583-1054C>T ENSP00000296133.5:n.583-1054C>T
ENST00000358525.8:c.686C>T ENSP00000346298.4:p.Thr229Ile
ENST00000413781.1:c.545C>T ENSP00000395506.1:p.Thr182Ile
ENST00000456124.6:c.686C>T ENSP00000404310.2:p.Thr229Ile
NM_020208.3:c.686C>T NP_064593.1:p.Thr229Ile
NM_022405.3:c.583-1054C>T NP_071800.1:n.583-1054C>T
XM_005265236.2:c.686C>T XP_005265293.1:p.Thr229Ile
XM_011533847.1:c.389C>T XP_011532149.1:p.Thr130Ile
XM_011533848.1:c.686C>T XP_011532150.1:p.Thr229Ile
XM_011533847.2:c.389C>T XP_011532149.1:p.Thr130Ile
XM_011533848.2:c.686C>T XP_011532150.1:p.Thr229Ile
NM_020208.4:c.686C>T MANE Select NP_064593.1:p.Thr229Ile
NM_022405.4:c.583-1054C>T NP_071800.1:n.583-1054C>T
NM_001385683.1:c.686C>T NP_001372612.1:p.Thr229Ile