Canonical Allele Identifier: CA943899330

Gene: SLC6A13

Linked Data

• gnomAD v3: 12-246708-G-A
• gnomAD v4: 12-246708-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.246708G>A , CM000674.2:g.246708G>A	GRCh38
NC_000012.11:g.355874G>A , CM000674.1:g.355874G>A	GRCh37
NC_000012.10:g.226135G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.203-2895C>T MANE Select	ENSP00000339260.4:n.203-2895C>T
ENST00000343164.8:c.203-2895C>T	ENSP00000339260.4:n.203-2895C>T
ENST00000445055.6:c.203-8698C>T	ENSP00000407104.2:n.203-8698C>T
ENST00000536842.5:n.256-2895C>T
ENST00000539260.1:c.203-2895C>T	ENSP00000437386.1:n.203-2895C>T
ENST00000542272.5:c.-155-2895C>T	ENSP00000443466.1:n.-155-2895C>T
ENST00000546319.5:c.203-8698C>T	ENSP00000444606.1:n.203-8698C>T
NM_001190997.2:c.203-8698C>T	NP_001177926.1:n.203-8698C>T
NM_016615.4:c.203-2895C>T	NP_057699.2:n.203-2895C>T
XM_005253749.2:c.269-2895C>T	XP_005253806.1:n.269-2895C>T
XM_011521012.1:c.-166-2895C>T	XP_011519314.1:n.-166-2895C>T
XM_011521013.1:c.-457-2895C>T	XP_011519315.1:n.-457-2895C>T
XM_011521012.2:c.-166-2895C>T	XP_011519314.1:n.-166-2895C>T
XM_017019844.1:c.203-2895C>T	XP_016875333.1:n.203-2895C>T
XM_017019846.1:c.203-2895C>T	XP_016875335.1:n.203-2895C>T
XM_017019847.1:c.203-2895C>T	XP_016875336.1:n.203-2895C>T
XR_001748849.1:n.256-2895C>T
XR_002957372.1:n.256-2895C>T
NM_016615.5:c.203-2895C>T MANE Select	NP_057699.2:n.203-2895C>T
NM_001190997.3:c.203-8698C>T	NP_001177926.1:n.203-8698C>T