Canonical Allele Identifier: CA383602716

Gene: SLC6A13

Linked Data

• MyVariant Identifiers: chr12:g.351786T>G (hg19) ; chr12:g.242620T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242620T>G , CM000674.2:g.242620T>G	GRCh38
NC_000012.11:g.351786T>G , CM000674.1:g.351786T>G	GRCh37
NC_000012.10:g.222047T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.472A>C MANE Select	ENSP00000339260.4:p.Asn158His
ENST00000343164.8:c.472A>C	ENSP00000339260.4:p.Asn158His
ENST00000445055.6:c.203-4610A>C	ENSP00000407104.2:n.203-4610A>C
ENST00000536842.5:n.525A>C
ENST00000539260.1:c.*111A>C	ENSP00000437386.1:n.*111A>C
ENST00000542272.5:c.115A>C	ENSP00000443466.1:p.Asn39His
ENST00000546319.5:c.203-4610A>C	ENSP00000444606.1:n.203-4610A>C
NM_001190997.2:c.203-4610A>C	NP_001177926.1:n.203-4610A>C
NM_016615.4:c.472A>C	NP_057699.2:p.Asn158His
XM_005253749.2:c.538A>C	XP_005253806.1:p.Asn180His
XM_011521012.1:c.115A>C	XP_011519314.1:p.Asn39His
XM_011521013.1:c.-188A>C	XP_011519315.1:n.-188A>C
XM_011521014.1:c.-188A>C	XP_011519316.1:n.-188A>C
XM_011521012.2:c.115A>C	XP_011519314.1:p.Asn39His
XM_017019844.1:c.472A>C	XP_016875333.1:p.Asn158His
XM_017019846.1:c.472A>C	XP_016875335.1:p.Asn158His
XM_017019847.1:c.472A>C	XP_016875336.1:p.Asn158His
XR_001748849.1:n.525A>C
XR_002957372.1:n.525A>C
NM_016615.5:c.472A>C MANE Select	NP_057699.2:p.Asn158His
NM_001190997.3:c.203-4610A>C	NP_001177926.1:n.203-4610A>C