Canonical Allele Identifier: CA73618775

Gene: SLC6A20

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45796346A>G , CM000665.2:g.45796346A>G	GRCh38
NC_000003.11:g.45837838A>G , CM000665.1:g.45837838A>G	GRCh37
NC_000003.10:g.45812842A>G	NCBI36
NG_023204.1:g.5198T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020208.4:c.74T>C MANE Select	NP_064593.1:p.Leu25Pro
ENST00000358525.9:c.74T>C MANE Select	ENSP00000346298.4:p.Leu25Pro
NM_001385683.1:c.74T>C	NP_001372612.1:p.Leu25Pro
NM_020208.3:c.74T>C	NP_064593.1:p.Leu25Pro
NM_022405.3:c.74T>C	NP_071800.1:p.Leu25Pro
NM_022405.4:c.74T>C	NP_071800.1:p.Leu25Pro
ENST00000353278.8:c.74T>C	ENSP00000296133.5:p.Leu25Pro
ENST00000358525.8:c.74T>C	ENSP00000346298.4:p.Leu25Pro
ENST00000413781.1:c.74T>C	ENSP00000395506.1:p.Leu25Pro
ENST00000456124.6:c.74T>C	ENSP00000404310.2:p.Leu25Pro
ENST00000470226.1:n.15T>C
ENST00000703343.1:c.74T>C	ENSP00000515266.1:p.Leu25Pro
ENST00000703344.1:n.146T>C
XM_005265236.2:c.74T>C	XP_005265293.1:p.Leu25Pro
XM_011533848.1:c.74T>C	XP_011532150.1:p.Leu25Pro
XM_011533848.2:c.74T>C	XP_011532150.1:p.Leu25Pro
XR_001740680.1:n.3311+303A>G