Canonical Allele Identifier: CA2351795

Gene: SLC6A20

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45796419T>C , CM000665.2:g.45796419T>C	GRCh38
NC_000003.11:g.45837911T>C , CM000665.1:g.45837911T>C	GRCh37
NC_000003.10:g.45812915T>C	NCBI36
NG_023204.1:g.5125A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020208.4:c.1A>G MANE Select	NP_064593.1:p.Met1Val
ENST00000358525.9:c.1A>G MANE Select	ENSP00000346298.4:p.Met1Val
NM_001385683.1:c.1A>G	NP_001372612.1:p.Met1Val
NM_020208.3:c.1A>G	NP_064593.1:p.Met1Val
NM_022405.3:c.1A>G	NP_071800.1:p.Met1Val
NM_022405.4:c.1A>G	NP_071800.1:p.Met1Val
ENST00000353278.8:c.1A>G	ENSP00000296133.5:p.Met1Val
ENST00000358525.8:c.1A>G	ENSP00000346298.4:p.Met1Val
ENST00000413781.1:c.1A>G	ENSP00000395506.1:p.Met1Val
ENST00000456124.6:c.1A>G	ENSP00000404310.2:p.Met1Val
ENST00000703343.1:c.1A>G	ENSP00000515266.1:p.Met1Val
ENST00000703344.1:n.73A>G
XM_005265236.2:c.1A>G	XP_005265293.1:p.Met1Val
XM_011533848.1:c.1A>G	XP_011532150.1:p.Met1Val
XM_011533848.2:c.1A>G	XP_011532150.1:p.Met1Val
XR_001740680.1:n.3311+376T>C