Canonical Allele Identifier: CA352453809

Gene: SLC6A20

Linked Data

• gnomAD v4: 3-45772513-T-A
• MyVariant Identifiers: chr3:g.45814005T>A (hg19) ; chr3:g.45772513T>A (hg38)

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