Canonical Allele Identifier: CA359477755

Gene: SLC1A3

Linked Data

• gnomAD v4: 5-36674081-G-C
• MyVariant Identifiers: chr5:g.36674183G>C (hg19) ; chr5:g.36674081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36674081G>C , CM000667.2:g.36674081G>C	GRCh38
NC_000005.9:g.36674183G>C , CM000667.1:g.36674183G>C	GRCh37
NC_000005.8:g.36709940G>C	NCBI36
NG_015890.1:g.72727G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265113.9:c.557G>C MANE Select	ENSP00000265113.4:p.Cys186Ser
ENST00000381918.4:c.557G>C	ENSP00000371343.4:p.Cys186Ser
ENST00000612708.5:c.524+2848G>C	ENSP00000483657.1:n.524+2848G>C
ENST00000613445.5:c.419G>C	ENSP00000477672.1:p.Cys140Ser
ENST00000624112.2:n.3550G>C
ENST00000679423.1:c.*219G>C	ENSP00000505306.1:n.*219G>C
ENST00000679487.1:c.33G>C
ENST00000679784.1:c.*469G>C	ENSP00000506030.1:n.*469G>C
ENST00000679958.1:c.320-11984G>C	ENSP00000505246.1:n.320-11984G>C
ENST00000679983.1:c.557G>C	ENSP00000505238.1:p.Cys186Ser
ENST00000679992.1:c.557G>C	ENSP00000506585.1:p.Cys186Ser
ENST00000680048.1:c.*1050G>C	ENSP00000505296.1:n.*1050G>C
ENST00000680064.1:n.923G>C
ENST00000680125.1:c.557G>C	ENSP00000506424.1:p.Cys186Ser
ENST00000680205.1:n.923G>C
ENST00000680232.1:c.557G>C	ENSP00000506207.1:p.Cys186Ser
ENST00000680318.1:c.557G>C	ENSP00000505057.1:p.Cys186Ser
ENST00000680655.1:c.*269G>C	ENSP00000506436.1:n.*269G>C
ENST00000680711.1:n.765G>C
ENST00000680835.1:c.33G>C
ENST00000680876.1:n.3738G>C
ENST00000680878.1:n.3738G>C
ENST00000681440.1:c.33G>C
ENST00000681633.1:n.923G>C
ENST00000681701.1:c.206-2811G>C
ENST00000681814.1:n.672G>C
ENST00000681909.1:c.419G>C	ENSP00000506599.1:p.Cys140Ser
ENST00000681926.1:c.557G>C	ENSP00000505850.1:p.Cys186Ser
ENST00000265113.8:c.557G>C	ENSP00000265113.4:p.Cys186Ser
ENST00000381918.3:c.557G>C	ENSP00000371343.3:p.Cys186Ser
ENST00000505376.1:n.321G>C
ENST00000612708.4:c.524+2848G>C	ENSP00000483657.1:n.524+2848G>C
ENST00000613445.4:c.419G>C	ENSP00000477672.1:p.Cys140Ser
NM_001166695.2:c.557G>C	NP_001160167.1:p.Cys186Ser
NM_001289939.1:c.419G>C	NP_001276868.1:p.Cys140Ser
NM_001289940.1:c.524+2848G>C	NP_001276869.1:n.524+2848G>C
NM_004172.4:c.557G>C	NP_004163.3:p.Cys186Ser
XM_005248342.1:c.557G>C	XP_005248399.1:p.Cys186Ser
XM_011514084.1:c.236G>C	XP_011512386.1:p.Cys79Ser
XM_005248342.3:c.557G>C	XP_005248399.1:p.Cys186Ser
XM_011514084.2:c.236G>C	XP_011512386.1:p.Cys79Ser
XM_024446181.1:c.557G>C	XP_024301949.1:p.Cys186Ser
XM_024446182.1:c.557G>C	XP_024301950.1:p.Cys186Ser
NM_004172.5:c.557G>C MANE Select	NP_004163.3:p.Cys186Ser
NM_001166695.3:c.557G>C	NP_001160167.1:p.Cys186Ser
NM_001289939.2:c.419G>C	NP_001276868.1:p.Cys140Ser
NM_001289940.2:c.524+2848G>C	NP_001276869.1:n.524+2848G>C