Canonical Allele Identifier: CA352453854

Gene: SLC6A20

Linked Data

• dbSNP Id: rs1370647324
• gnomAD v4: 3-45772519-T-C
• MyVariant Identifiers: chr3:g.45814011T>C (hg19) ; chr3:g.45772519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772519T>C , CM000665.2:g.45772519T>C	GRCh38
NC_000003.11:g.45814011T>C , CM000665.1:g.45814011T>C	GRCh37
NC_000003.10:g.45789015T>C	NCBI36
NG_023204.1:g.29025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703343.1:c.679A>G	ENSP00000515266.1:p.Met227Val
ENST00000358525.9:c.679A>G MANE Select	ENSP00000346298.4:p.Met227Val
ENST00000353278.8:c.583-1061A>G	ENSP00000296133.5:n.583-1061A>G
ENST00000358525.8:c.679A>G	ENSP00000346298.4:p.Met227Val
ENST00000413781.1:c.538A>G	ENSP00000395506.1:p.Met180Val
ENST00000456124.6:c.679A>G	ENSP00000404310.2:p.Met227Val
NM_020208.3:c.679A>G	NP_064593.1:p.Met227Val
NM_022405.3:c.583-1061A>G	NP_071800.1:n.583-1061A>G
XM_005265236.2:c.679A>G	XP_005265293.1:p.Met227Val
XM_011533847.1:c.382A>G	XP_011532149.1:p.Met128Val
XM_011533848.1:c.679A>G	XP_011532150.1:p.Met227Val
XM_011533847.2:c.382A>G	XP_011532149.1:p.Met128Val
XM_011533848.2:c.679A>G	XP_011532150.1:p.Met227Val
NM_020208.4:c.679A>G MANE Select	NP_064593.1:p.Met227Val
NM_022405.4:c.583-1061A>G	NP_071800.1:n.583-1061A>G
NM_001385683.1:c.679A>G	NP_001372612.1:p.Met227Val