Canonical Allele Identifier: CA2536875378

Gene: SLC6A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242347C>G , CM000674.2:g.242347C>G	GRCh38
NC_000012.11:g.351513C>G , CM000674.1:g.351513C>G	GRCh37
NC_000012.10:g.221774C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343164.9:c.478+267G>C MANE Select	ENSP00000339260.4:n.478+267G>C
ENST00000343164.8:c.478+267G>C	ENSP00000339260.4:n.478+267G>C
ENST00000445055.6:c.203-4337G>C	ENSP00000407104.2:n.203-4337G>C
ENST00000536842.5:n.531+267G>C
ENST00000539260.1:c.*117+267G>C	ENSP00000437386.1:n.*117+267G>C
ENST00000542272.5:c.121+267G>C	ENSP00000443466.1:n.121+267G>C
ENST00000546319.5:c.203-4337G>C	ENSP00000444606.1:n.203-4337G>C
NM_001190997.2:c.203-4337G>C	NP_001177926.1:n.203-4337G>C
NM_016615.4:c.478+267G>C	NP_057699.2:n.478+267G>C
XM_005253749.2:c.544+267G>C	XP_005253806.1:n.544+267G>C
XM_011521012.1:c.121+267G>C	XP_011519314.1:n.121+267G>C
XM_011521013.1:c.-182+267G>C	XP_011519315.1:n.-182+267G>C
XM_011521014.1:c.-182+267G>C	XP_011519316.1:n.-182+267G>C
XM_011521012.2:c.121+267G>C	XP_011519314.1:n.121+267G>C
XM_017019844.1:c.478+267G>C	XP_016875333.1:n.478+267G>C
XM_017019846.1:c.478+267G>C	XP_016875335.1:n.478+267G>C
XM_017019847.1:c.478+267G>C	XP_016875336.1:n.478+267G>C
XR_001748849.1:n.531+267G>C
XR_002957372.1:n.531+267G>C
NM_016615.5:c.478+267G>C MANE Select	NP_057699.2:n.478+267G>C
NM_001190997.3:c.203-4337G>C	NP_001177926.1:n.203-4337G>C