Canonical Allele Identifier: CA117101
Gene: SLC6A20 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4845
dbSNP Id: rs17279437

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45772602G>A , CM000665.2:g.45772602G>A GRCh38
NC_000003.11:g.45814094G>A , CM000665.1:g.45814094G>A GRCh37
NC_000003.10:g.45789098G>A NCBI36
NG_023204.1:g.28942C>T

Transcript Alleles

HGVS Amino-acid change
NM_020208.3:c.596C>T VV NP_064593.1:p.Thr199Met
NM_022405.3:c.583-1144C>T VV NP_071800.1:p.=
XM_005265236.2:c.596C>T XP_005265293.1:p.Thr199Met
XM_011533847.1:c.299C>T XP_011532149.1:p.Thr100Met
XM_011533848.1:c.596C>T XP_011532150.1:p.Thr199Met
XM_011533847.2:c.299C>T XP_011532149.1:p.Thr100Met
XM_011533848.2:c.596C>T XP_011532150.1:p.Thr199Met
NM_020208.4:c.596C>T VV MANE Preferred NP_064593.1:p.Thr199Met
ENST00000353278.8:c.583-1144C>T ENSP00000296133.5:p.=
ENST00000358525.8:c.596C>T ENSP00000346298.4:p.Thr199Met
ENST00000413781.1:c.455C>T ENSP00000395506.1:p.Thr152Met
ENST00000456124.6:c.596C>T ENSP00000404310.2:p.Thr199Met