Canonical Allele Identifier: CA1139658025

Gene: SLC6A20

Linked Data

• ClinVar Variation Id: 902320
• ClinVar RCV Id: RCV001148790
• dbSNP Id: rs1699538615

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45756170G>A , CM000665.2:g.45756170G>A	GRCh38
NC_000003.11:g.45797662G>A , CM000665.1:g.45797662G>A	GRCh37
NC_000003.10:g.45772666G>A	NCBI36
NG_023204.1:g.45374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358525.9:c.*2808C>T MANE Select	ENSP00000346298.4:n.*2808C>T
ENST00000353278.8:c.*2808C>T	ENSP00000296133.5:n.*2808C>T
ENST00000358525.8:c.*2808C>T	ENSP00000346298.4:n.*2808C>T
ENST00000456124.6:c.*788C>T	ENSP00000404310.2:n.*788C>T
NM_020208.3:c.*2808C>T	NP_064593.1:n.*2808C>T
NM_022405.3:c.*2808C>T	NP_071800.1:n.*2808C>T
XM_005265236.2:c.*2267C>T	XP_005265293.1:n.*2267C>T
XM_011533847.1:c.*2808C>T	XP_011532149.1:n.*2808C>T
XM_011533847.2:c.*2808C>T	XP_011532149.1:n.*2808C>T
NM_020208.4:c.*2808C>T MANE Select	NP_064593.1:n.*2808C>T
NM_022405.4:c.*2808C>T	NP_071800.1:n.*2808C>T
NM_001385683.1:c.*2808C>T	NP_001372612.1:n.*2808C>T