Canonical Allele Identifier: CA383602772

Gene: SLC6A13

Linked Data

• dbSNP Id: rs1942206143
• gnomAD v4: 12-242630-G-T
• MyVariant Identifiers: chr12:g.351796G>T (hg19) ; chr12:g.242630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242630G>T , CM000674.2:g.242630G>T	GRCh38
NC_000012.11:g.351796G>T , CM000674.1:g.351796G>T	GRCh37
NC_000012.10:g.222057G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.462C>A MANE Select	ENSP00000339260.4:p.Tyr154Ter
ENST00000343164.8:c.462C>A	ENSP00000339260.4:p.Tyr154Ter
ENST00000445055.6:c.203-4620C>A	ENSP00000407104.2:n.203-4620C>A
ENST00000536842.5:n.515C>A
ENST00000539260.1:c.*101C>A	ENSP00000437386.1:n.*101C>A
ENST00000542272.5:c.105C>A	ENSP00000443466.1:p.Tyr35Ter
ENST00000546319.5:c.203-4620C>A	ENSP00000444606.1:n.203-4620C>A
NM_001190997.2:c.203-4620C>A	NP_001177926.1:n.203-4620C>A
NM_016615.4:c.462C>A	NP_057699.2:p.Tyr154Ter
XM_005253749.2:c.528C>A	XP_005253806.1:p.Tyr176Ter
XM_011521012.1:c.105C>A	XP_011519314.1:p.Tyr35Ter
XM_011521013.1:c.-198C>A	XP_011519315.1:n.-198C>A
XM_011521014.1:c.-198C>A	XP_011519316.1:n.-198C>A
XM_011521012.2:c.105C>A	XP_011519314.1:p.Tyr35Ter
XM_017019844.1:c.462C>A	XP_016875333.1:p.Tyr154Ter
XM_017019846.1:c.462C>A	XP_016875335.1:p.Tyr154Ter
XM_017019847.1:c.462C>A	XP_016875336.1:p.Tyr154Ter
XR_001748849.1:n.515C>A
XR_002957372.1:n.515C>A
NM_016615.5:c.462C>A MANE Select	NP_057699.2:p.Tyr154Ter
NM_001190997.3:c.203-4620C>A	NP_001177926.1:n.203-4620C>A