Canonical Allele Identifier: CA46513509
Gene: SLC3A1 HGNC NCBI
dbSNP:
387907276
gnomAD v2:
2:44541070 T / G
gnomAD v4:
chr2-44313931-T-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr2:g.44313931T>G
GRCh37 chr2:g.44541070T>G
Revel Score:
ENST00000260649 (MANE Select) 0.916
ENST00000409387 0.916
ENST00000540334 0.916
ENST00000409229 0.916
ENST00000541289 0.916
ENST00000409380 0.916
ENST00000409294 0.916
ENST00000409740 0.916
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44313931T>G , CM000664.2:g.44313931T>G GRCh38
NC_000002.11:g.44541070T>G , CM000664.1:g.44541070T>G GRCh37
NC_000002.10:g.44394574T>G NCBI36
NG_008233.1:g.43474T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260649.11:c.1597T>G MANE Select ENSP00000260649.6:p.Tyr533Asp
ENST00000649044.1:c.*1608T>G ENSP00000497083.1:n.*1608T>G
ENST00000260649.10:c.1597T>G ENSP00000260649.6:p.Tyr533Asp
ENST00000409229.7:c.1597T>G ENSP00000386620.3:p.Tyr533Asp
ENST00000409294.5:c.457T>G ENSP00000386852.1:p.Tyr153Asp
ENST00000409380.5:c.763T>G ENSP00000386709.1:p.Tyr255Asp
ENST00000409387.5:c.1597T>G ENSP00000387308.1:p.Tyr533Asp
ENST00000409740.3:c.490T>G ENSP00000386677.3:p.Tyr164Asp
ENST00000611973.4:c.1597T>G ENSP00000483618.1:p.Tyr533Asp
NM_000341.3:c.1597T>G NP_000332.2:p.Tyr533Asp
XM_011533047.1:c.1597T>G XP_011531349.1:p.Tyr533Asp
XM_011533047.3:c.1597T>G XP_011531349.1:p.Tyr533Asp
NM_000341.4:c.1597T>G MANE Select NP_000332.2:p.Tyr533Asp
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