Canonical Allele Identifier: CA3235451

Gene: SLC1A3

Linked Data

• ClinVar Variation Id: 353312
• ClinVar RCV Id: RCV002523520
• dbSNP Id: rs764799721
• ExAC: 5:36671185 T / C
• gnomAD v2: 5-36671185-T-C
• gnomAD v4: 5-36671083-T-C
• MyVariant Identifiers: chr5:g.36671185T>C (hg19) ; chr5:g.36671083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36671083T>C , CM000667.2:g.36671083T>C	GRCh38
NC_000005.9:g.36671185T>C , CM000667.1:g.36671185T>C	GRCh37
NC_000005.8:g.36706942T>C	NCBI36
NG_015890.1:g.69729T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265113.9:c.374T>C MANE Select	ENSP00000265113.4:p.Val125Ala
ENST00000381918.4:c.374T>C	ENSP00000371343.4:p.Val125Ala
ENST00000612708.5:c.374T>C	ENSP00000483657.1:p.Val125Ala
ENST00000613445.5:c.236T>C	ENSP00000477672.1:p.Val79Ala
ENST00000624112.2:n.3367T>C
ENST00000679423.1:c.*36T>C	ENSP00000505306.1:n.*36T>C
ENST00000679784.1:c.*286T>C	ENSP00000506030.1:n.*286T>C
ENST00000679958.1:c.320-14982T>C	ENSP00000505246.1:n.320-14982T>C
ENST00000679983.1:c.374T>C	ENSP00000505238.1:p.Val125Ala
ENST00000679992.1:c.374T>C	ENSP00000506585.1:p.Val125Ala
ENST00000680016.1:n.141T>C
ENST00000680048.1:c.*867T>C	ENSP00000505296.1:n.*867T>C
ENST00000680064.1:n.740T>C
ENST00000680125.1:c.374T>C	ENSP00000506424.1:p.Val125Ala
ENST00000680205.1:n.740T>C
ENST00000680232.1:c.374T>C	ENSP00000506207.1:p.Val125Ala
ENST00000680318.1:c.374T>C	ENSP00000505057.1:p.Val125Ala
ENST00000680527.1:c.*154T>C	ENSP00000504868.1:n.*154T>C
ENST00000680655.1:c.*86T>C	ENSP00000506436.1:n.*86T>C
ENST00000680711.1:n.582T>C
ENST00000680876.1:n.740T>C
ENST00000680878.1:n.740T>C
ENST00000681373.1:n.55T>C
ENST00000681633.1:n.740T>C
ENST00000681701.1:c.55T>C
ENST00000681726.1:c.307T>C
ENST00000681814.1:n.489T>C
ENST00000681909.1:c.236T>C	ENSP00000506599.1:p.Val79Ala
ENST00000681926.1:c.374T>C	ENSP00000505850.1:p.Val125Ala
ENST00000265113.8:c.374T>C	ENSP00000265113.4:p.Val125Ala
ENST00000381918.3:c.374T>C	ENSP00000371343.3:p.Val125Ala
ENST00000505376.1:n.138T>C
ENST00000509272.1:n.394T>C
ENST00000514563.5:n.439T>C
ENST00000612708.4:c.374T>C	ENSP00000483657.1:p.Val125Ala
ENST00000613445.4:c.236T>C	ENSP00000477672.1:p.Val79Ala
NM_001166695.2:c.374T>C	NP_001160167.1:p.Val125Ala
NM_001289939.1:c.236T>C	NP_001276868.1:p.Val79Ala
NM_001289940.1:c.374T>C	NP_001276869.1:p.Val125Ala
NM_004172.4:c.374T>C	NP_004163.3:p.Val125Ala
XM_005248342.1:c.374T>C	XP_005248399.1:p.Val125Ala
XM_011514084.1:c.53T>C	XP_011512386.1:p.Val18Ala
XM_005248342.3:c.374T>C	XP_005248399.1:p.Val125Ala
XM_011514084.2:c.53T>C	XP_011512386.1:p.Val18Ala
XM_024446181.1:c.374T>C	XP_024301949.1:p.Val125Ala
XM_024446182.1:c.374T>C	XP_024301950.1:p.Val125Ala
NM_004172.5:c.374T>C MANE Select	NP_004163.3:p.Val125Ala
NM_001166695.3:c.374T>C	NP_001160167.1:p.Val125Ala
NM_001289939.2:c.236T>C	NP_001276868.1:p.Val79Ala
NM_001289940.2:c.374T>C	NP_001276869.1:p.Val125Ala