Canonical Allele Identifier: CA10620326

Gene: SLC1A3

Linked Data

• ClinVar Variation Id: 353354
• ClinVar RCV Id: RCV000280394
• dbSNP Id: rs2269272
• gnomAD v2: 5-36687856-C-T
• gnomAD v3: 5-36687754-C-T
• gnomAD v4: 5-36687754-C-T
• MyVariant Identifiers: chr5:g.36687856C>T (hg19) ; chr5:g.36687754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36687754C>T , CM000667.2:g.36687754C>T	GRCh38
NC_000005.9:g.36687856C>T , CM000667.1:g.36687856C>T	GRCh37
NC_000005.8:g.36723613C>T	NCBI36
NG_015890.1:g.86400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265113.9:c.*1485C>T MANE Select	ENSP00000265113.4:n.*1485C>T
ENST00000381918.4:c.*1485C>T	ENSP00000371343.4:n.*1485C>T
ENST00000612708.5:c.*1485C>T	ENSP00000483657.1:n.*1485C>T
ENST00000613445.5:c.*1485C>T	ENSP00000477672.1:n.*1485C>T
ENST00000624112.2:n.6107C>T
ENST00000679784.1:c.*3026C>T	ENSP00000506030.1:n.*3026C>T
ENST00000679852.1:c.1924C>T
ENST00000679958.1:c.*1607C>T	ENSP00000505246.1:n.*1607C>T
ENST00000679983.1:c.*1485C>T	ENSP00000505238.1:n.*1485C>T
ENST00000679992.1:c.*1485C>T	ENSP00000506585.1:n.*1485C>T
ENST00000680048.1:c.*3607C>T	ENSP00000505296.1:n.*3607C>T
ENST00000680125.1:c.*1485C>T	ENSP00000506424.1:n.*1485C>T
ENST00000680232.1:c.*1485C>T	ENSP00000506207.1:n.*1485C>T
ENST00000680318.1:c.*1485C>T	ENSP00000505057.1:n.*1485C>T
ENST00000680568.1:n.2342C>T
ENST00000680655.1:c.*2826C>T	ENSP00000506436.1:n.*2826C>T
ENST00000680876.1:n.6295C>T
ENST00000680878.1:n.6160C>T
ENST00000681633.1:n.5922C>T
ENST00000681926.1:c.*1485C>T	ENSP00000505850.1:n.*1485C>T
ENST00000265113.8:c.*1485C>T	ENSP00000265113.4:n.*1485C>T
ENST00000381918.3:c.*1485C>T	ENSP00000371343.3:n.*1485C>T
ENST00000612708.4:c.*1485C>T	ENSP00000483657.1:n.*1485C>T
ENST00000613445.4:c.*1485C>T	ENSP00000477672.1:n.*1485C>T
NM_001166695.2:c.*1485C>T	NP_001160167.1:n.*1485C>T
NM_001289939.1:c.*1485C>T	NP_001276868.1:n.*1485C>T
NM_001289940.1:c.*1485C>T	NP_001276869.1:n.*1485C>T
NM_004172.4:c.*1485C>T	NP_004163.3:n.*1485C>T
XM_005248342.1:c.*1485C>T	XP_005248399.1:n.*1485C>T
XM_011514084.1:c.*1485C>T	XP_011512386.1:n.*1485C>T
XM_005248342.3:c.*1485C>T	XP_005248399.1:n.*1485C>T
XM_011514084.2:c.*1485C>T	XP_011512386.1:n.*1485C>T
XM_024446181.1:c.*1485C>T	XP_024301949.1:n.*1485C>T
XM_024446182.1:c.*1485C>T	XP_024301950.1:n.*1485C>T
NM_004172.5:c.*1485C>T MANE Select	NP_004163.3:n.*1485C>T
NM_001166695.3:c.*1485C>T	NP_001160167.1:n.*1485C>T
NM_001289939.2:c.*1485C>T	NP_001276868.1:n.*1485C>T
NM_001289940.2:c.*1485C>T	NP_001276869.1:n.*1485C>T