Canonical Allele Identifier: CA3235513

Gene: SLC1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36676974T>C , CM000667.2:g.36676974T>C	GRCh38
NC_000005.9:g.36677076T>C , CM000667.1:g.36677076T>C	GRCh37
NC_000005.8:g.36712833T>C	NCBI36
NG_015890.1:g.75620T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004172.5:c.650T>C MANE Select	NP_004163.3:p.Val217Ala
ENST00000265113.9:c.650T>C MANE Select	ENSP00000265113.4:p.Val217Ala
NM_001166695.2:c.650T>C	NP_001160167.1:p.Val217Ala
NM_001166695.3:c.650T>C	NP_001160167.1:p.Val217Ala
NM_001289939.1:c.512T>C	NP_001276868.1:p.Val171Ala
NM_001289939.2:c.512T>C	NP_001276868.1:p.Val171Ala
NM_001289940.1:c.525-2653T>C	NP_001276869.1:n.525-2653T>C
NM_001289940.2:c.525-2653T>C	NP_001276869.1:n.525-2653T>C
NM_004172.4:c.650T>C	NP_004163.3:p.Val217Ala
ENST00000265113.8:c.650T>C	ENSP00000265113.4:p.Val217Ala
ENST00000381918.3:c.650T>C	ENSP00000371343.3:p.Val217Ala
ENST00000381918.4:c.650T>C	ENSP00000371343.4:p.Val217Ala
ENST00000505376.1:n.414T>C
ENST00000612708.4:c.525-2653T>C	ENSP00000483657.1:n.525-2653T>C
ENST00000612708.5:c.525-2653T>C	ENSP00000483657.1:n.525-2653T>C
ENST00000613445.4:c.512T>C	ENSP00000477672.1:p.Val171Ala
ENST00000613445.5:c.512T>C	ENSP00000477672.1:p.Val171Ala
ENST00000624112.2:n.3643T>C
ENST00000679487.1:c.44-2781T>C
ENST00000679784.1:c.*562T>C	ENSP00000506030.1:n.*562T>C
ENST00000679958.1:c.320-9091T>C	ENSP00000505246.1:n.320-9091T>C
ENST00000679983.1:c.650T>C	ENSP00000505238.1:p.Val217Ala
ENST00000679992.1:c.650T>C	ENSP00000506585.1:p.Val217Ala
ENST00000680048.1:c.*1143T>C	ENSP00000505296.1:n.*1143T>C
ENST00000680064.1:n.1016T>C
ENST00000680125.1:c.650T>C	ENSP00000506424.1:p.Val217Ala
ENST00000680232.1:c.650T>C	ENSP00000506207.1:p.Val217Ala
ENST00000680318.1:c.650T>C	ENSP00000505057.1:p.Val217Ala
ENST00000680655.1:c.*362T>C	ENSP00000506436.1:n.*362T>C
ENST00000680835.1:c.44-2653T>C
ENST00000680876.1:n.3831T>C
ENST00000680878.1:n.3831T>C
ENST00000680890.1:c.83T>C	ENSP00000505580.1:p.Val28Ala
ENST00000681440.1:c.43+2883T>C
ENST00000681480.1:c.83T>C	ENSP00000506380.1:p.Val28Ala
ENST00000681633.1:n.1016T>C
ENST00000681701.1:c.288T>C
ENST00000681814.1:n.765T>C
ENST00000681854.1:c.83T>C	ENSP00000504899.1:p.Val28Ala
ENST00000681909.1:c.512T>C	ENSP00000506599.1:p.Val171Ala
ENST00000681926.1:c.650T>C	ENSP00000505850.1:p.Val217Ala
XM_005248342.1:c.650T>C	XP_005248399.1:p.Val217Ala
XM_005248342.3:c.650T>C	XP_005248399.1:p.Val217Ala
XM_011514084.1:c.329T>C	XP_011512386.1:p.Val110Ala
XM_011514084.2:c.329T>C	XP_011512386.1:p.Val110Ala
XM_024446181.1:c.650T>C	XP_024301949.1:p.Val217Ala
XM_024446182.1:c.650T>C	XP_024301950.1:p.Val217Ala