Canonical Allele Identifier: CA2351564

Gene: SLC6A20

Linked Data

• dbSNP Id: rs751050900
• ExAC: 3:45814110 G / C
• gnomAD v2: 3-45814110-G-C
• gnomAD v4: 3-45772618-G-C
• MyVariant Identifiers: chr3:g.45814110G>C (hg19) ; chr3:g.45772618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772618G>C , CM000665.2:g.45772618G>C	GRCh38
NC_000003.11:g.45814110G>C , CM000665.1:g.45814110G>C	GRCh37
NC_000003.10:g.45789114G>C	NCBI36
NG_023204.1:g.28926C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703343.1:c.583-3C>G	ENSP00000515266.1:n.583-3C>G
ENST00000358525.9:c.583-3C>G MANE Select	ENSP00000346298.4:n.583-3C>G
ENST00000353278.8:c.583-1160C>G	ENSP00000296133.5:n.583-1160C>G
ENST00000358525.8:c.583-3C>G	ENSP00000346298.4:n.583-3C>G
ENST00000413781.1:c.442-3C>G	ENSP00000395506.1:n.442-3C>G
ENST00000456124.6:c.583-3C>G	ENSP00000404310.2:n.583-3C>G
NM_020208.3:c.583-3C>G	NP_064593.1:n.583-3C>G
NM_022405.3:c.583-1160C>G	NP_071800.1:n.583-1160C>G
XM_005265236.2:c.583-3C>G	XP_005265293.1:n.583-3C>G
XM_011533847.1:c.286-3C>G	XP_011532149.1:n.286-3C>G
XM_011533848.1:c.583-3C>G	XP_011532150.1:n.583-3C>G
XM_011533847.2:c.286-3C>G	XP_011532149.1:n.286-3C>G
XM_011533848.2:c.583-3C>G	XP_011532150.1:n.583-3C>G
NM_020208.4:c.583-3C>G MANE Select	NP_064593.1:n.583-3C>G
NM_022405.4:c.583-1160C>G	NP_071800.1:n.583-1160C>G
NM_001385683.1:c.583-3C>G	NP_001372612.1:n.583-3C>G