Canonical Allele Identifier: CA352453819

Gene: SLC6A20

Linked Data

• MyVariant Identifiers: chr3:g.45814007A>C (hg19) ; chr3:g.45772515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772515A>C , CM000665.2:g.45772515A>C	GRCh38
NC_000003.11:g.45814007A>C , CM000665.1:g.45814007A>C	GRCh37
NC_000003.10:g.45789011A>C	NCBI36
NG_023204.1:g.29029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703343.1:c.683T>G	ENSP00000515266.1:p.Phe228Cys
ENST00000358525.9:c.683T>G MANE Select	ENSP00000346298.4:p.Phe228Cys
ENST00000353278.8:c.583-1057T>G	ENSP00000296133.5:n.583-1057T>G
ENST00000358525.8:c.683T>G	ENSP00000346298.4:p.Phe228Cys
ENST00000413781.1:c.542T>G	ENSP00000395506.1:p.Phe181Cys
ENST00000456124.6:c.683T>G	ENSP00000404310.2:p.Phe228Cys
NM_020208.3:c.683T>G	NP_064593.1:p.Phe228Cys
NM_022405.3:c.583-1057T>G	NP_071800.1:n.583-1057T>G
XM_005265236.2:c.683T>G	XP_005265293.1:p.Phe228Cys
XM_011533847.1:c.386T>G	XP_011532149.1:p.Phe129Cys
XM_011533848.1:c.683T>G	XP_011532150.1:p.Phe228Cys
XM_011533847.2:c.386T>G	XP_011532149.1:p.Phe129Cys
XM_011533848.2:c.683T>G	XP_011532150.1:p.Phe228Cys
NM_020208.4:c.683T>G MANE Select	NP_064593.1:p.Phe228Cys
NM_022405.4:c.583-1057T>G	NP_071800.1:n.583-1057T>G
NM_001385683.1:c.683T>G	NP_001372612.1:p.Phe228Cys