Canonical Allele Identifier: CA13379127

Gene: SLC1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35419429T>G , CM000673.2:g.35419429T>G	GRCh38
NC_000011.9:g.35440976T>G , CM000673.1:g.35440976T>G	GRCh37
NC_000011.8:g.35397552T>G	NCBI36
NG_008727.1:g.5130A>C
NG_008727.2:g.5130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.-463A>C MANE Select	ENSP00000278379.3:n.-463A>C
ENST00000395750.6:c.5+507A>C	ENSP00000379099.2:n.5+507A>C
ENST00000395753.6:c.-11+479A>C	ENSP00000379102.1:n.-11+479A>C
ENST00000449068.2:c.-41-422A>C	ENSP00000406133.2:n.-41-422A>C
ENST00000642392.1:n.89+507A>C
ENST00000642578.1:c.-11+479A>C	ENSP00000494076.1:n.-11+479A>C
ENST00000643000.1:c.-11+491A>C	ENSP00000495164.1:n.-11+491A>C
ENST00000643154.1:n.118A>C
ENST00000643305.1:c.-463A>C	ENSP00000494828.1:n.-463A>C
ENST00000643401.1:c.33+479A>C	ENSP00000493765.1:n.33+479A>C
ENST00000643522.1:c.-463A>C	ENSP00000496375.1:n.-463A>C
ENST00000644351.1:c.-463A>C	ENSP00000496587.1:n.-463A>C
ENST00000644459.1:c.-463A>C	ENSP00000495861.1:n.-463A>C
ENST00000644779.1:c.-698A>C	ENSP00000494258.1:n.-698A>C
ENST00000645634.1:c.-167+479A>C	ENSP00000493945.1:n.-167+479A>C
ENST00000645966.1:c.-80+491A>C	ENSP00000493762.1:n.-80+491A>C
ENST00000646099.1:c.5+507A>C	ENSP00000495799.1:n.5+507A>C
ENST00000646847.1:c.-42+353A>C	ENSP00000493924.1:n.-42+353A>C
ENST00000647104.1:c.-130+507A>C	ENSP00000494025.1:n.-130+507A>C
ENST00000647372.1:c.-11+491A>C	ENSP00000495277.1:n.-11+491A>C
ENST00000395750.5:c.-130+507A>C	ENSP00000379099.1:n.-130+507A>C
ENST00000395753.5:c.-167+479A>C	ENSP00000379102.1:n.-167+479A>C
ENST00000449068.1:c.5+507A>C	ENSP00000406133.1:n.5+507A>C
NM_001195728.2:c.-130+507A>C	NP_001182657.1:n.-130+507A>C
NM_001252652.1:c.-167+479A>C	NP_001239581.1:n.-167+479A>C
NM_004171.3:c.-463A>C	NP_004162.2:n.-463A>C
XM_011520284.1:c.-522A>C	XP_011518586.1:n.-522A>C
XM_011520285.1:c.5+507A>C	XP_011518587.1:n.5+507A>C
XM_011520286.1:c.-522A>C	XP_011518588.1:n.-522A>C
XM_011520287.1:c.-522A>C	XP_011518589.1:n.-522A>C
XM_011520285.2:c.5+507A>C	XP_011518587.1:n.5+507A>C
XM_017018137.1:c.-11+479A>C	XP_016873626.1:n.-11+479A>C
XM_017018138.1:c.-11+491A>C	XP_016873627.1:n.-11+491A>C
NM_004171.4:c.-463A>C MANE Select	NP_004162.2:n.-463A>C
NM_001195728.3:c.-130+507A>C	NP_001182657.1:n.-130+507A>C
NM_001252652.2:c.-167+479A>C	NP_001239581.1:n.-167+479A>C