Canonical Allele Identifier: CA6378284

Gene: SLC6A13

Linked Data

• dbSNP Id: rs754822008
• ExAC: 12:351798 A / G
• gnomAD v2: 12-351798-A-G
• gnomAD v4: 12-242632-A-G
• MyVariant Identifiers: chr12:g.351798A>G (hg19) ; chr12:g.242632A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242632A>G , CM000674.2:g.242632A>G	GRCh38
NC_000012.11:g.351798A>G , CM000674.1:g.351798A>G	GRCh37
NC_000012.10:g.222059A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.460T>C MANE Select	ENSP00000339260.4:p.Tyr154His
ENST00000343164.8:c.460T>C	ENSP00000339260.4:p.Tyr154His
ENST00000445055.6:c.203-4622T>C	ENSP00000407104.2:n.203-4622T>C
ENST00000536842.5:n.513T>C
ENST00000539260.1:c.*99T>C	ENSP00000437386.1:n.*99T>C
ENST00000542272.5:c.103T>C	ENSP00000443466.1:p.Tyr35His
ENST00000546319.5:c.203-4622T>C	ENSP00000444606.1:n.203-4622T>C
NM_001190997.2:c.203-4622T>C	NP_001177926.1:n.203-4622T>C
NM_016615.4:c.460T>C	NP_057699.2:p.Tyr154His
XM_005253749.2:c.526T>C	XP_005253806.1:p.Tyr176His
XM_011521012.1:c.103T>C	XP_011519314.1:p.Tyr35His
XM_011521013.1:c.-200T>C	XP_011519315.1:n.-200T>C
XM_011521014.1:c.-200T>C	XP_011519316.1:n.-200T>C
XM_011521012.2:c.103T>C	XP_011519314.1:p.Tyr35His
XM_017019844.1:c.460T>C	XP_016875333.1:p.Tyr154His
XM_017019846.1:c.460T>C	XP_016875335.1:p.Tyr154His
XM_017019847.1:c.460T>C	XP_016875336.1:p.Tyr154His
XR_001748849.1:n.513T>C
XR_002957372.1:n.513T>C
NM_016615.5:c.460T>C MANE Select	NP_057699.2:p.Tyr154His
NM_001190997.3:c.203-4622T>C	NP_001177926.1:n.203-4622T>C