Canonical Allele Identifier: CA1640460
Gene: SLC3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.44304140T>C
GRCh37 chr2:g.44531279T>C
gnomAD v2:
2:44531279 T / C
gnomAD v3:
2:44304140 T / C
gnomAD v4:
chr2-44304140-T-C
Joint Max Group AF 0.00161701 (SAS)
Genomes Max Group AF 0.00068187 (SAS)
Exomes Max Group AF 0.00163191 (SAS)
ClinVar Allele:
287162
ClinVar RCV:
RCV000279645
ClinVar Variation:
336200
dbSNP:
555017366
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44304140T>C , CM000664.2:g.44304140T>C GRCh38
NC_000002.11:g.44531279T>C , CM000664.1:g.44531279T>C GRCh37
NC_000002.10:g.44384783T>C NCBI36
NG_008233.1:g.33683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260649.11:c.1137-3T>C MANE Select ENSP00000260649.6:n.1137-3T>C
ENST00000649044.1:c.*1148-3T>C ENSP00000497083.1:n.*1148-3T>C
ENST00000260649.10:c.1137-3T>C ENSP00000260649.6:n.1137-3T>C
ENST00000409229.7:c.1137-3T>C ENSP00000386620.3:n.1137-3T>C
ENST00000409294.5:c.-4-3T>C ENSP00000386852.1:n.-4-3T>C
ENST00000409380.5:c.303-3T>C ENSP00000386709.1:n.303-3T>C
ENST00000409387.5:c.1137-3T>C ENSP00000387308.1:n.1137-3T>C
ENST00000409740.3:c.27T>C ENSP00000386677.3:p.Tyr9=
ENST00000409741.5:c.1137-3T>C ENSP00000386954.1:n.1137-3T>C
ENST00000611973.4:c.1137-3T>C ENSP00000483618.1:n.1137-3T>C
NM_000341.3:c.1137-3T>C NP_000332.2:n.1137-3T>C
XM_011533047.1:c.1137-3T>C XP_011531349.1:n.1137-3T>C
XM_011533047.3:c.1137-3T>C XP_011531349.1:n.1137-3T>C
NM_000341.4:c.1137-3T>C MANE Select NP_000332.2:n.1137-3T>C
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