Canonical Allele Identifier: CA602708462

Gene: SLC6A13

Linked Data

• dbSNP Id: rs1242362851
• gnomAD v2: 12-351539-T-C
• gnomAD v3: 12-242373-T-C
• gnomAD v4: 12-242373-T-C
• MyVariant Identifiers: chr12:g.351539T>C (hg19) ; chr12:g.242373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242373T>C , CM000674.2:g.242373T>C	GRCh38
NC_000012.11:g.351539T>C , CM000674.1:g.351539T>C	GRCh37
NC_000012.10:g.221800T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343164.9:c.478+241A>G MANE Select	ENSP00000339260.4:n.478+241A>G
ENST00000343164.8:c.478+241A>G	ENSP00000339260.4:n.478+241A>G
ENST00000445055.6:c.203-4363A>G	ENSP00000407104.2:n.203-4363A>G
ENST00000536842.5:n.531+241A>G
ENST00000539260.1:c.*117+241A>G	ENSP00000437386.1:n.*117+241A>G
ENST00000542272.5:c.121+241A>G	ENSP00000443466.1:n.121+241A>G
ENST00000546319.5:c.203-4363A>G	ENSP00000444606.1:n.203-4363A>G
NM_001190997.2:c.203-4363A>G	NP_001177926.1:n.203-4363A>G
NM_016615.4:c.478+241A>G	NP_057699.2:n.478+241A>G
XM_005253749.2:c.544+241A>G	XP_005253806.1:n.544+241A>G
XM_011521012.1:c.121+241A>G	XP_011519314.1:n.121+241A>G
XM_011521013.1:c.-182+241A>G	XP_011519315.1:n.-182+241A>G
XM_011521014.1:c.-182+241A>G	XP_011519316.1:n.-182+241A>G
XM_011521012.2:c.121+241A>G	XP_011519314.1:n.121+241A>G
XM_017019844.1:c.478+241A>G	XP_016875333.1:n.478+241A>G
XM_017019846.1:c.478+241A>G	XP_016875335.1:n.478+241A>G
XM_017019847.1:c.478+241A>G	XP_016875336.1:n.478+241A>G
XR_001748849.1:n.531+241A>G
XR_002957372.1:n.531+241A>G
NM_016615.5:c.478+241A>G MANE Select	NP_057699.2:n.478+241A>G
NM_001190997.3:c.203-4363A>G	NP_001177926.1:n.203-4363A>G