Canonical Allele Identifier: CA602709175

Gene: SLC6A13

Linked Data

• dbSNP Id: rs1426063419
• gnomAD v2: 12-355860-A-C
• gnomAD v3: 12-246694-A-C
• gnomAD v4: 12-246694-A-C
• MyVariant Identifiers: chr12:g.355860A>C (hg19) ; chr12:g.246694A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.246694A>C , CM000674.2:g.246694A>C	GRCh38
NC_000012.11:g.355860A>C , CM000674.1:g.355860A>C	GRCh37
NC_000012.10:g.226121A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.203-2881T>G MANE Select	ENSP00000339260.4:n.203-2881T>G
ENST00000343164.8:c.203-2881T>G	ENSP00000339260.4:n.203-2881T>G
ENST00000445055.6:c.203-8684T>G	ENSP00000407104.2:n.203-8684T>G
ENST00000536842.5:n.256-2881T>G
ENST00000539260.1:c.203-2881T>G	ENSP00000437386.1:n.203-2881T>G
ENST00000542272.5:c.-155-2881T>G	ENSP00000443466.1:n.-155-2881T>G
ENST00000546319.5:c.203-8684T>G	ENSP00000444606.1:n.203-8684T>G
NM_001190997.2:c.203-8684T>G	NP_001177926.1:n.203-8684T>G
NM_016615.4:c.203-2881T>G	NP_057699.2:n.203-2881T>G
XM_005253749.2:c.269-2881T>G	XP_005253806.1:n.269-2881T>G
XM_011521012.1:c.-166-2881T>G	XP_011519314.1:n.-166-2881T>G
XM_011521013.1:c.-457-2881T>G	XP_011519315.1:n.-457-2881T>G
XM_011521012.2:c.-166-2881T>G	XP_011519314.1:n.-166-2881T>G
XM_017019844.1:c.203-2881T>G	XP_016875333.1:n.203-2881T>G
XM_017019846.1:c.203-2881T>G	XP_016875335.1:n.203-2881T>G
XM_017019847.1:c.203-2881T>G	XP_016875336.1:n.203-2881T>G
XR_001748849.1:n.256-2881T>G
XR_002957372.1:n.256-2881T>G
NM_016615.5:c.203-2881T>G MANE Select	NP_057699.2:n.203-2881T>G
NM_001190997.3:c.203-8684T>G	NP_001177926.1:n.203-8684T>G