Canonical Allele Identifier: CA2351609

Gene: SLC6A20

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45775870G>A , CM000665.2:g.45775870G>A	GRCh38
NC_000003.11:g.45817362G>A , CM000665.1:g.45817362G>A	GRCh37
NC_000003.10:g.45792366G>A	NCBI36
NG_023204.1:g.25674C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020208.4:c.473C>T MANE Select	NP_064593.1:p.Pro158Leu
ENST00000358525.9:c.473C>T MANE Select	ENSP00000346298.4:p.Pro158Leu
NM_001385683.1:c.473C>T	NP_001372612.1:p.Pro158Leu
NM_020208.3:c.473C>T	NP_064593.1:p.Pro158Leu
NM_022405.3:c.473C>T	NP_071800.1:p.Pro158Leu
NM_022405.4:c.473C>T	NP_071800.1:p.Pro158Leu
ENST00000353278.8:c.473C>T	ENSP00000296133.5:p.Pro158Leu
ENST00000358525.8:c.473C>T	ENSP00000346298.4:p.Pro158Leu
ENST00000413781.1:c.332C>T	ENSP00000395506.1:p.Pro111Leu
ENST00000456124.6:c.473C>T	ENSP00000404310.2:p.Pro158Leu
ENST00000703343.1:c.473C>T	ENSP00000515266.1:p.Pro158Leu
ENST00000703344.1:n.545C>T
XM_005265236.2:c.473C>T	XP_005265293.1:p.Pro158Leu
XM_011533847.1:c.176C>T	XP_011532149.1:p.Pro59Leu
XM_011533847.2:c.176C>T	XP_011532149.1:p.Pro59Leu
XM_011533848.1:c.473C>T	XP_011532150.1:p.Pro158Leu
XM_011533848.2:c.473C>T	XP_011532150.1:p.Pro158Leu