Canonical Allele Identifier: CA127836
Gene: SLC3A1 HGNC NCBI
ClinVar RCV:
RCV000019750
ClinVar Variation:
18122
dbSNP:
121912697
gnomAD v2:
2:44528215 G / A
gnomAD v3:
2:44301076 G / A
gnomAD v4:
chr2-44301076-G-A
Joint Max Group AF 0.00002977 (EAS)
Genomes Max Group AF 0.00006825 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
MyVariant.info:
GRCh38 chr2:g.44301076G>A
GRCh37 chr2:g.44528215G>A
Revel Score:
ENST00000260649 (MANE Select) 0.818
ENST00000409387 0.818
ENST00000540334 0.818
ENST00000410056 0.818
ENST00000409741 0.818
ENST00000409229 0.818
ENST00000541289 0.818
ENST00000409380 0.818
ENST00000427285 0.818
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44301076G>A , CM000664.2:g.44301076G>A GRCh38
NC_000002.11:g.44528215G>A , CM000664.1:g.44528215G>A GRCh37
NC_000002.10:g.44381719G>A NCBI36
NG_008233.1:g.30619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260649.11:c.1085G>A MANE Select ENSP00000260649.6:p.Arg362His
ENST00000649044.1:c.*1096G>A ENSP00000497083.1:n.*1096G>A
ENST00000260649.10:c.1085G>A ENSP00000260649.6:p.Arg362His
ENST00000409229.7:c.1085G>A ENSP00000386620.3:p.Arg362His
ENST00000409294.5:c.-5+986G>A ENSP00000386852.1:n.-5+986G>A
ENST00000409380.5:c.251G>A ENSP00000386709.1:p.Arg84His
ENST00000409387.5:c.1085G>A ENSP00000387308.1:p.Arg362His
ENST00000409741.5:c.1085G>A ENSP00000386954.1:p.Arg362His
ENST00000410056.7:c.1085G>A ENSP00000387337.3:p.Arg362His
ENST00000427285.1:c.419G>A ENSP00000391642.1:p.Arg140His
ENST00000611973.4:c.1085G>A ENSP00000483618.1:p.Arg362His
NM_000341.3:c.1085G>A NP_000332.2:p.Arg362His
XM_011533047.1:c.1085G>A XP_011531349.1:p.Arg362His
XM_011533047.3:c.1085G>A XP_011531349.1:p.Arg362His
NM_000341.4:c.1085G>A MANE Select NP_000332.2:p.Arg362His
Search 100 bp 5'
Search 100 bp 3'